Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Enlarged sylvian cistern, Perisylvian polymicrogyria |
OMIM:615752 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Lissencephaly 1 |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Ag... |
OMIM:607432 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia |
OMIM:123155 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydroceph... |
OMIM:604213 |
Band Heterotopia |
|
Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic... |
OMIM:600348 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615938 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe... |
OMIM:220200 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Right ao... |
OMIM:231060 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Enlarged sylvian cistern, Ventriculomegaly, Agyria, Pachygyria |
ORPHA:1084 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Simplified gyral pattern, Ventriculomegaly, Abnormal cerebellum morphology |
ORPHA:329228 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615937 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... |
ORPHA:401942 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... |
OMIM:611880 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Lissencephaly, Periventricu... |
OMIM:618677 |
Lissencephaly 3 |
|
Gray matter heterotopia, Ventriculomegaly, Spastic tetraplegia, Agyria, Cerebellar vermis hypopla... |
OMIM:611603 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Simplified gyral pattern, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypopl... |
OMIM:615763 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:617800 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:171703 |
Microlissencephaly |
|
Subcortical heterotopia, Ventriculomegaly, Periventricular heterotopia, Simplified gyral pattern,... |
ORPHA:1083 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy, Cerebellar hypoplasia, Periventricular nodular heterotopia, Spa... |
OMIM:618572 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia, Cerebellar vermis atrophy |
ORPHA:458798 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypoplasia of the brainstem, Ventriculomegaly, Lissencephaly, Pachygyria, Cerebellar atrophy, Pol... |
OMIM:618730 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Polymicrogyria |
OMIM:612691 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Spinocerebellar Ataxia 41 |
|
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Cerebellar corti... |
ORPHA:171622 |
Periventricular Nodular Heterotopia 8 |
|
Spasticity, Cerebellar vermis atrophy, Periventricular nodular heterotopia |
OMIM:618185 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Lissencephaly 4 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum, Colp... |
OMIM:614019 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Vascular dilatati... |
ORPHA:99095 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Ventral hernia, Anencephaly, Ectopia cordis, Congenita... |
OMIM:313850 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Abnormal cerebellar vermis morphology, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:2703 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Abnormal brain... |
ORPHA:300573 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Death in infancy, Type 1 fibers relatively smaller... |
OMIM:619424 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Dysgy... |
ORPHA:352682 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear... |
ORPHA:57777 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Hypertension, Agenesis of corpus callosum |
OMIM:166990 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Pierre Robin Syndrome |
|
Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left hea... |
ORPHA:2476 |
Spastic Paraplegia 88, Autosomal Dominant |
|
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:620106 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... |
OMIM:614473 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... |
OMIM:617018 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia |
ORPHA:1538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:614830 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ventriculomegaly, Optic atrophy, Ataxia, Olivopontocerebellar atrophy, Hypertonia |
ORPHA:2732 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Limb Body Wall Complex |
|
Thoracic hypoplasia, Abnormal thorax morphology, Broad hallux, Spina bifida occulta, Abnormal int... |
ORPHA:2369 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Impaired distal proprioception, Impaired distal vibration sensation, Spasticity, Spastic gait, At... |
OMIM:619742 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, H... |
OMIM:613154 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation |
ORPHA:217012 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Limb ataxia, Spastic gait, Gait ataxia |
OMIM:617133 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... |
OMIM:600884 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Truncal ataxia, Inability to walk |
OMIM:615268 |
Mmep Syndrome |
|
Mandibular prognathia, Orofacial cleft, Ventricular septal defect, Median cleft lip |
ORPHA:3434 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy |
ORPHA:423296 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy, Torticollis, Choreoathetosis, Ataxia, Babins... |
OMIM:619054 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... |
OMIM:611615 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Focal polymicrogyria, Ataxia, Partial agenesis of the corpus callosum, ... |
OMIM:615771 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Malar fla... |
ORPHA:1919 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Simplified gyral pattern, Ventriculomegaly, Ataxia |
OMIM:613402 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Pontocerebellar Hypoplasia, Type 12 |
|
Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:618266 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... |
OMIM:213200 |
Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Gastroschisis, Ectopia cordis, Hand polydactyly, Abnormal rib cag... |
OMIM:217100 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... |
OMIM:604286 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, High palate, Micrognathia, Atrial septal... |
ORPHA:3304 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Ventriculomegaly |
OMIM:115210 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Diprosopus |
|
Non-midline cleft lip, Anencephaly, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:1681 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... |
ORPHA:1457 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, T... |
OMIM:618273 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... |
OMIM:617967 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia, Optic atrophy |
OMIM:614706 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Optic atrophy, Limb ataxia, Ataxia, Babinski sign, Lower limb spasticity, Cerebellar... |
OMIM:614322 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Ventriculomegaly And Arthrogryposis |
|
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Myoclonus, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, Intention... |
OMIM:618876 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Tip-toe gait, Ventriculomegaly, Cerebellar cyst, Facial diplegia, Diffic... |
ORPHA:370980 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Retrocerebellar cyst, Dilated fourth ventricle, Gait ataxia, Abnormal pyramidal sign, Dysdiadocho... |
OMIM:614831 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture |
ORPHA:171719 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Diamond-Blackfan Anemia 6 |
|
Retrognathia, Ventricular hypertrophy, Patent ductus arteriosus, Cleft upper lip, Ventricular sep... |
OMIM:612561 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Intent... |
ORPHA:284332 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Cerebell... |
OMIM:613153 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Lissencephaly 5 |
|
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Optic atrophy, Hydrocephalus, Spastic ... |
OMIM:615191 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc... |
OMIM:619903 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly |
ORPHA:1568 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Spasticity, Cerebellar hypoplasia, Aganglionic megacolon, Inferior cerebellar vermis hypoplasia, ... |
OMIM:304100 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tricuspid regu... |
ORPHA:99106 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Abnormal sternum morphology, Mitral stenosis, Bicuspid aortic valve, Pa... |
ORPHA:2847 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... |
OMIM:614096 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Sensory axonal neuropathy, Dysmetria,... |
OMIM:607458 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Gait ataxia, Ventriculomegaly, Optic atrophy, Slurred speech, Cerebellar atrophy |
OMIM:619323 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Abnormal thorax morphology, Upper limb phocomeli... |
ORPHA:294975 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Impaired distal proprioception, Gait ataxia, Lim... |
OMIM:610245 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm |
OMIM:601163 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Peripheral axonal... |
OMIM:615957 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal jugular vein morphology, Abnormal cardia... |
ORPHA:1677 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... |
OMIM:616948 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria |
OMIM:617584 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Congenital ... |
ORPHA:1166 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Peripheral axon... |
OMIM:610357 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Moyamoya Disease |
|
Telangiectasia, Ventriculomegaly |
ORPHA:2573 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ventriculomegaly, Upper limb spasticity, Ataxia, Hypertonia, Lower limb spasticity, Cerebellar at... |
OMIM:613925 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Optic atrophy, Hemiplegia/hemiparesis, Gait... |
ORPHA:2572 |
Alexander Disease |
|
Abnormal dentate nucleus morphology, Spasticity, Palatal tremor, Hydrocephalus, Ataxia, Babinski ... |
OMIM:203450 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch morphology, Downturned co... |
ORPHA:1110 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Left ventri... |
OMIM:619048 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria |
OMIM:614483 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy |
OMIM:616291 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Long philtrum, Bi... |
ORPHA:477817 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Autosomal Recessive Amelia |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Micrognathia, Acromelia of the lower l... |
ORPHA:1027 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Agenesis of corpus callosu... |
ORPHA:250972 |
Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Ventricular septal defect, Foot oligodactyly, Bilateral cleft lip, Anterior ence... |
OMIM:601357 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Hypersplenism, Right ventric... |
OMIM:616028 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissencephaly, Occipital enceph... |
ORPHA:324416 |
Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Micrognathia, Nemaline bodies, Cleft palate, Arthrogrypos... |
OMIM:615731 |
Pontocerebellar Hypoplasia, Type 15 |
|
Spastic tetraplegia, Cerebellar hypoplasia, Simplified gyral pattern, Hydrocephalus, Partial agen... |
OMIM:619302 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Pachygyria, Colpocephaly |
OMIM:614870 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc... |
OMIM:300718 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... |
OMIM:618782 |
Nescav Syndrome |
|
Spasticity, Cerebellar vermis atrophy, Optic atrophy, Inability to walk, Appendicular spasticity,... |
OMIM:614255 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar hypoplasia, Hemiparesis, Cerebellar vermis hypoplasia, Lissencephaly, Partial agenesis... |
OMIM:610031 |
Spinocerebellar Ataxia 11 |
|
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... |
OMIM:604432 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Dysdiadochokinesis, Cerebellar h... |
OMIM:224050 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Polyhydramnios, Flexion contracture, D... |
OMIM:608149 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis |
OMIM:611694 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Myopathy, Myofibrillar, 1 |
|
Third degree atrioventricular block, Restrictive cardiomyopathy, Dilated cardiomyopathy, EMG: myo... |
OMIM:601419 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... |
ORPHA:99104 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... |
ORPHA:363710 |
Neurodegeneration With Brain Iron Accumulation |
|
Chorea, Spasticity, Optic atrophy, Rigidity, Abnormality of extrapyramidal motor function, Cerebe... |
ORPHA:385 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Spina... |
ORPHA:1908 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Spinocerebellar Ataxia 46 |
|
Gait ataxia, Limb ataxia, Positive Romberg sign, Sensory axonal neuropathy, Dysmetria, Cerebellar... |
OMIM:617770 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem... |
ORPHA:77299 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Thin up... |
OMIM:601927 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem... |
OMIM:615768 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... |
OMIM:613728 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... |
OMIM:612937 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Ataxia, Impaired pain sensation, Cerebellar vermis... |
ORPHA:1532 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, High palate, Muscle fiber atrophy, Internally nuc... |
OMIM:618654 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Congenital Hydrocephalus |
|
Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Lissencephaly, Colpocephaly |
ORPHA:2185 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... |
ORPHA:945 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Non-midline cleft lip, Absent gallbladder, Abnormal sternum morp... |
ORPHA:1335 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... |
OMIM:220210 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Right bundle branch block, Right axis deviation, Centrally nucleated... |
OMIM:255160 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Flexion contracture, Periportal fibrosis, Short long bone, Oligohydramnios, Conge... |
OMIM:263210 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:608716 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia |
ORPHA:99966 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Inability to walk, Ataxia, Peripheral axonal neuropathy, Lower limb sp... |
OMIM:619389 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Narrow chest, Short philtrum, Downturned corners of mouth, Abnormal cl... |
ORPHA:93267 |
Thomas Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... |
ORPHA:206559 |
Coffin-Siris Syndrome 3 |
|
Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Short distal ... |
OMIM:614608 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... |
ORPHA:2414 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ... |
OMIM:300580 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Triphalangeal thumb, Preaxial hand polyd... |
ORPHA:1120 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pectus excavatum, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Patent foramen ovale, D... |
OMIM:618316 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ventriculomegaly, Cerebellar hypoplasia |
OMIM:618383 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Decreased muscle mass, High palate, Generalized amyotrophy, Pectus excavatum... |
OMIM:271225 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,... |
ORPHA:1170 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia |
OMIM:615705 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Ventriculomegaly, Pachygyria |
OMIM:617613 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor |
OMIM:608029 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep... |
OMIM:615297 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Long philtrum, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, S... |
OMIM:301022 |
Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Oculomotor apraxia, Cere... |
OMIM:615960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Optic nerve hypoplas... |
OMIM:615181 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Simplified gyral pattern, Lateral ventricle dilatation |
OMIM:617668 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Spasticity, Limb ataxia, Ataxia, Dysmetria, Peripheral axonal neuropathy, Cerebellar... |
OMIM:610743 |
Triploidy |
|
Meningocele, Polyhydramnios, Non-midline cleft lip, Abnormality of the pancreas, Finger syndactyl... |
ORPHA:3376 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:1261 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Fr... |
OMIM:608629 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Chronic sinusitis, Median cleft lip and palate, Median cleft lip, Non-midl... |
ORPHA:1991 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Liss... |
ORPHA:1528 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... |
OMIM:616827 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation |
OMIM:615889 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... |
OMIM:609200 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
Sonoda Syndrome |
|
Narrow mouth, Ventricular septal defect |
OMIM:270460 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... |
ORPHA:3400 |
Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:2466 |
Fried Syndrome |
|
Hydrocephalus, Gait disturbance, Abnormal cerebellum morphology, Spastic diplegia |
ORPHA:85335 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Myoclonus, Ataxia |
OMIM:600143 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Spasticity, Agyria, Lissencephaly, Ataxia, Pachygyria, Agenesis of corpu... |
OMIM:300067 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Trisomy 1Q |
|
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Preaxial hand... |
ORPHA:261344 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Left atrial enlargement, Decreased muscle glycogen content, Stroke,... |
OMIM:611556 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Cellulitis, Lymphedema, Nonimmune hydrops fetalis, Prune belly, Atrial septal def... |
OMIM:616843 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Ventriculomegaly, Molar tooth sign on MRI, Superior cerebellar dysplasia... |
OMIM:617622 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia, Facial palsy, Hydrocephalus, Cere... |
OMIM:613155 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:616486 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Cleft palate, Short palm, Narrow g... |
OMIM:228520 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, M... |
ORPHA:261120 |
Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Dilated fourth ventricle, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus,... |
ORPHA:251347 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Gingival recession, Periodontitis, Gingival fragility, Bruising susceptibility, Prominent superfi... |
OMIM:617174 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... |
ORPHA:97214 |
Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida o... |
OMIM:201000 |
Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Perisylvian polymicrogyria, Ventriculomegaly, Cerebellar hypoplasia, Cerebe... |
OMIM:616531 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, M... |
OMIM:617090 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... |
ORPHA:423275 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Spasticity, Perisylvian polymicrogyria, Ventriculomegaly, Aganglionic m... |
ORPHA:171680 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... |
ORPHA:98762 |
Spinocerebellar Ataxia 49 |
|
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Sensory ... |
OMIM:619806 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... |
ORPHA:555877 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Optic atrophy, Impaired tactile sensation, Torticollis, Upper limb spasticity, Spastic paraplegia... |
OMIM:619686 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum, Atrial septal... |
OMIM:608227 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Hydrops fetalis, Narrow palate, Ventricular septa... |
OMIM:617022 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:613443 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady... |
OMIM:302500 |
Lissencephaly 6 With Microcephaly |
|
Spasticity, Periventricular heterotopia, Ventriculomegaly, Limb hypertonia, Simplified gyral patt... |
OMIM:616212 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Polyhydramnios, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion con... |
ORPHA:1692 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hydrops fetalis, High palate, Abnormal thorax morphology, Congestive he... |
OMIM:269920 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... |
OMIM:616204 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Peripheral axonal neuropathy, Steppage gait, Cerebellar a... |
OMIM:618387 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:616540 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Microdontia, Syndactyl... |
OMIM:601005 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Ventricular hypertrophy, Flexion contracture, Ischemic stroke, Bifid uvula, Pe... |
OMIM:208050 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Hypoplasia of the ... |
OMIM:618736 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Simplified gyral pattern, Dilated third ventricle, Agenesis of corpus callosum, Lateral ventricle... |
OMIM:619244 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Autosomal Recessive Primary Microcephaly |
|
Agenesis of corpus callosum, Gray matter heterotopia, Ventriculomegaly, Pachygyria |
ORPHA:2512 |
Emanuel Syndrome |
|
Patent ductus arteriosus, High palate, Truncus arteriosus, Ventricular septal defect, Long philtr... |
OMIM:609029 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Simplified gyral pattern, Dilated cardiomyopathy, Hypertrophic cardiomyopath... |
OMIM:618815 |
Fetal Minoxidil Syndrome |
|
Micrognathia, Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Acrocallosal Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:36 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Abnormal palate morphology, Sandal gap, End... |
ORPHA:2022 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Mogs-Cdg |
|
Polyhydramnios, High palate, Thoracic scoliosis, Pulmonary edema, Left ventricular hypertrophy, A... |
ORPHA:79330 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... |
OMIM:618845 |
Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... |
OMIM:253300 |
Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
Polymicrogyria, Bilateral Frontoparietal |
|
Ankle clonus, Perisylvian polymicrogyria, Ventriculomegaly, Cerebellar hypoplasia, Truncal ataxia... |
OMIM:606854 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Optic atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Hypo... |
OMIM:616171 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Polyhydramnios, Thoracic dysplasia, Median cleft lip, Hepatomegaly, Short palm, ... |
OMIM:269860 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abno... |
ORPHA:95717 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar dysplasia, Hypoplasia of the brainstem, Lateral ventricle di... |
OMIM:617751 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... |
ORPHA:363705 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly |
ORPHA:3207 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Oculomoto... |
ORPHA:370022 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Malabsorption, Clubbing of fingers, Clubbing, Edema, Abnormal intestine morph... |
OMIM:226300 |
Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot, Encephalocele |
ORPHA:217 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... |
OMIM:616201 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, High palate, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5t... |
ORPHA:1520 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Optic atrophy, Cardiac arrest, Retinal ... |
ORPHA:49827 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Hypoplastic spleen, Right atrial enlargement, E... |
OMIM:619313 |
Spinocerebellar Ataxia 1 |
|
Optic atrophy, Truncal ataxia, Babinski sign, Spinocerebellar atrophy, Spasticity, Decreased moto... |
OMIM:164400 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic ca... |
OMIM:618234 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, ... |
ORPHA:63260 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Vascular dilatation, Heart murmur, Pulmonic valve myxoma, Jaundice, Conge... |
ORPHA:615 |
Maternally-Inherited Diabetes And Deafness |
|
Retinopathy, Hypertension, Congestive heart failure, Abnormal chorioretinal morphology, Hypertrop... |
ORPHA:225 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Emanuel Syndrome |
|
Multiple joint contractures, Truncus arteriosus, Delayed eruption of teeth, Ectopic anus, Bifid u... |
ORPHA:96170 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy, Unsteady gait, Intent... |
OMIM:615386 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus, Hydranencephaly, Short distal phalanx of finger, C... |
OMIM:601355 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Enlarged tho... |
ORPHA:251071 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spasticity, Optic atrophy, Spastic tetraplegia, Ataxia, Peripheral axonal neuropathy, Cerebellar ... |
OMIM:617207 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy |
OMIM:602541 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I... |
OMIM:617225 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Everted l... |
OMIM:249670 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Cle... |
OMIM:616898 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Ventricular septa... |
ORPHA:254534 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... |
ORPHA:85451 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Ventriculomegaly, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, B... |
OMIM:615362 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Clubbing of fingers, Edema, Ventricular tachyca... |
OMIM:605676 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomot... |
OMIM:183090 |
Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Heart block, Abnormal vena cava morphology, Abno... |
ORPHA:185 |
Cantu Syndrome |
|
Patent ductus arteriosus, Broad first metatarsal, Thick upper lip vermilion, Congenital hypertrop... |
OMIM:239850 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Perisylvian polymicrogyria, Ventriculomegaly, Later... |
OMIM:618291 |
Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Hip dyspl... |
ORPHA:324604 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Short thorax, Finger syndactyly, Long philtrum, Rib segment... |
ORPHA:2311 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia |
OMIM:125370 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Cerebellar atro... |
OMIM:616230 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Cerebellar ... |
OMIM:607596 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Aplasia/Hy... |
ORPHA:1263 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:303350 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Death in childhood, Congestive heart failure, Death in infancy |
OMIM:615440 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:500166 |
Sialidosis Type 2 |
|
Pedal edema, Flexion contracture, Hydrops fetalis, Short thorax, Inguinal hernia, Skeletal muscle... |
ORPHA:87876 |
Joubert Syndrome 24 |
|
Spasticity, Cerebellar hypoplasia, Gait disturbance, Ataxia, Dysmetria, Pachygyria, Polymicrogyria |
OMIM:616654 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... |
OMIM:616127 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
Schisis Association |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63862 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology |
OMIM:608776 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Aortic Arch Interruption |
|
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosu... |
ORPHA:2299 |
15Q24 Microdeletion Syndrome |
|
Hernia, Small hand, Long philtrum, Myelomeningocele, Thick lower lip vermilion, Clinodactyly, Ana... |
ORPHA:94065 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Ventriculomegaly, Cerebral hemorrhage, Cerebellar hypoplasia, Lateral ve... |
OMIM:617397 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Flexion contracture, High palate, Camptodactyly, Adducted thumb, Inguinal ... |
OMIM:618011 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Tooth agenesis, Abno... |
ORPHA:2092 |
Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Ankylo... |
OMIM:618021 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Hypoplasti... |
OMIM:136760 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Hepatic failure, Flexion contracture, Cirrhosis, Abnormal muscle glycogen content... |
ORPHA:367 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para... |
OMIM:607565 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Cerebellar cyst, Cerebellar gliosis, Partial agen... |
ORPHA:79243 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Cervical ribs, Pulmonary artery sten... |
OMIM:600001 |
Vacterl/Vater Association |
|
Polyhydramnios, Non-midline cleft lip, Preaxial hand polydactyly, Abnormality of the pancreas, Fi... |
ORPHA:887 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus, Congestive heart failure |
OMIM:300886 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Impaired distal vibration sensation, Spasticity, Abnormal pyramidal sign, Ventriculomegaly, Optic... |
OMIM:616680 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Mandibular prognathia, Ventricular septal defect, Micrognathia, Bifid uvula, Hyp... |
OMIM:608572 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Gait ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Dysdiadochokine... |
OMIM:617633 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Partial absence of cerebellar vermis, Ao... |
OMIM:220220 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal... |
ORPHA:370959 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Micrognathia, Abnormal palate morphology, Tooth agenesis, Mesom... |
ORPHA:1277 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Mulibrey Nanism |
|
Enamel hypoplasia, Dental malocclusion, Hydrops fetalis, Pericardial constriction, Hypodontia, De... |
OMIM:253250 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Cerebellar hypoplasia, Atrial septal defect, Situs inversus totalis, Tetralogy of Fallot, Agenesi... |
OMIM:601322 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Peripheral axonal neuropathy, Steppage gait, Cerebellar atrophy, Distal sensory impairment |
OMIM:607250 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Cellulitis, Congestive heart failu... |
ORPHA:90308 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Somatic sensory dysfunction, Paresthesia, Optic atrophy, Postural t... |
ORPHA:99947 |
Mast Syndrome |
|
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Babinski sign, Spastic paraplegia,... |
OMIM:248900 |
Bowen-Conradi Syndrome |
|
Ventriculomegaly |
ORPHA:1270 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Micrognathia, Oral synechia, Atrial septal de... |
ORPHA:1388 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Missing ribs, Congenital diaphragmatic hernia... |
ORPHA:1488 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
Alexander Disease Type I |
|
Spasticity, Abnormal pyramidal sign, Palatal tremor, Hydrocephalus, Ataxia, Cerebellar atrophy |
ORPHA:363717 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration, Abnormal optic disc morphology, Hemiplegia/hemi... |
ORPHA:65 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Simplified gyral pattern, Hydrocephalus, Spastic tetraparesis, Tremor, Broad-based... |
OMIM:619470 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... |
ORPHA:284324 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Asplenia, Hepatomegal... |
OMIM:306955 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Asplenia, Posterior rib fusion, Nonimmune hydrops ... |
OMIM:265380 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Short foot, Finger syndactyly, Small hand, Delayed erup... |
ORPHA:915 |
Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Subependymal cysts, Decreased CSF glutamine concentration, Neonatal... |
OMIM:610015 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Abnormality of the gallbladder, Congen... |
ORPHA:2075 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Lissencephaly, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
ORPHA:284417 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Hepatomegaly, Arrhythmia, Splenomegaly, Cardiom... |
OMIM:602390 |
Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Ventriculomegaly, Optic atrophy, Myoclonus, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Distal Trisomy 15Q |
|
Camptodactyly of finger, High palate, Long philtrum, Anal atresia, Pectus excavatum, Downturned c... |
ORPHA:1707 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Atrioventricular canal defect, Polyhydramnios, Polydactyly, Unbalanced at... |
OMIM:619534 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Progressive gait ataxia, Truncal ataxia, Paralysis, Limb ataxia, Bab... |
ORPHA:101112 |
Chromosome 9P Deletion Syndrome |
|
Tapered finger, Clinodactyly of the 5th toe, Hallux varus, Narrow palate, Ventricular septal defe... |
OMIM:158170 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... |
OMIM:614954 |
Tonne-Kalscheuer Syndrome |
|
Widely spaced teeth, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Downturned co... |
OMIM:300978 |
Snijders Blok-Campeau Syndrome |
|
Ventriculomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Attention defic... |
OMIM:618205 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Retrocerebellar cyst, Abnormal pyramidal sign, Ventriculomegaly, Dysdiadochokinesis, Progressive ... |
ORPHA:363429 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Death in infancy, Camptodacty... |
OMIM:608104 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Hypoplasia of the pons, Cerebellar cyst, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:613151 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar dysplasia, Abnormal pyramidal sign, Abnormal cerebellum morphology, Ventriculomegaly, ... |
ORPHA:101070 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Atax... |
OMIM:207950 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Action tremor, Cerebellar atrophy, Prog... |
OMIM:604326 |
Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatic fibrosis, Elevated hepatic transaminase, Congestive heart failure, Hepatomegal... |
OMIM:613313 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Ventricular septal defect, Hypoplastic ilia, Short ribs, Hy... |
OMIM:617895 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Hydrops fetalis, Ventriculomegaly, Pericardial effusion, Abnormal bl... |
ORPHA:292 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Wide mouth, Delayed eruption of teeth, Mitral valve prolapse, Abnormal m... |
ORPHA:137834 |
Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypoplasia, Hydrocephalus, Polymic... |
OMIM:614219 |
C Syndrome |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Short metacarpal, Wide mouth, T... |
OMIM:211750 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Fryns Syndrome |
|
Polyhydramnios, Non-midline cleft lip, Abnormal cardiac septum morphology, Ectopic anus, Median c... |
ORPHA:2059 |
Serkal Syndrome |
|
Ventricular septal defect, Malrotation of small bowel, Oligohydramnios, Congenital diaphragmatic ... |
ORPHA:139466 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Ataxia, Peripheral axonal neuropathy, Difficulty walking, Cerebellar atrophy |
OMIM:619425 |
Spinocerebellar Ataxia Type 2 |
|
Chorea, Gait ataxia, Abnormal cortical gyration, Postural tremor, Parkinsonism, Cerebellar Purkin... |
ORPHA:98756 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:617296 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Cach Syndrome |
|
Cerebellar vermis atrophy, Lateral ventricle dilatation, T2 hypointense thalamus, Dysgyria, Cereb... |
ORPHA:135 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Cerebellar vermis atrophy, Ventriculomegaly, Rigidity, Myoclonus, Ataxia, Ce... |
ORPHA:248111 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Flexion contracture, Encephalocele, Calf muscle hypertrophy, Cerebellar hypoplasia, Agyria, Conge... |
OMIM:253800 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Atrioventricular canal defect, Short philtrum, Diastema, Hypoplasia of the maxilla... |
OMIM:619142 |
Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Dysmetria, Cerebellar atrophy, Progressive c... |
OMIM:605361 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... |
OMIM:619517 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephalus,... |
OMIM:615219 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... |
OMIM:540000 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Increased variability in muscle fiber diameter, Fatty replacement of skeletal ... |
OMIM:301075 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery f... |
OMIM:614294 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Polyhydramnios, Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Wide mouth, Abnormal aortic valve morphology, Short... |
ORPHA:1194 |
Familial Dyskinesia And Facial Myokymia |
|
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia |
ORPHA:324588 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Abnormal cerebellum morphology, Progressive cer... |
ORPHA:98 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... |
OMIM:252011 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Telangiectasia, Cherry red spot of the macula, Petechiae, Abnormal EKG, Hepatospleno... |
ORPHA:93400 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Hydrocephalus, Conotruncal defect, Cleft palate |
OMIM:243440 |
Null Syndrome |
|
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Abnormal cerebellum m... |
ORPHA:280234 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, ... |
ORPHA:2143 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Colpocephaly, Ventriculomegaly, Abnormal cerebellum morphol... |
ORPHA:397715 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Cerebellar atrophy... |
OMIM:616602 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:616570 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot, Arthrogryposis multiplex congenita |
ORPHA:250994 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Short thorax, Coxa valga, Abnormal cardiac septu... |
ORPHA:2484 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Plantar flexion contracture, Cutaneous syndactyly of toes, Torticollis, Bifid uvula, Small hypoth... |
ORPHA:2872 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Nemaline ... |
OMIM:161800 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Poor fine motor coordination, Gait ataxia, Cerebellar vermis atrophy, Intention tremor, Difficult... |
ORPHA:512260 |
Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Ventriculomegaly, Abnormal brainstem morphology, Agyria, Hypo... |
ORPHA:467166 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambulation, Limb tremor, Ce... |
OMIM:256731 |
Congenital Disorder Of Glycosylation, Type Iib |
|
High palate, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Overlap... |
OMIM:606056 |
Spinocerebellar Ataxia 26 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Cerebellar atrophy |
OMIM:609306 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Thoracic scoliosis, Joint contracture of the hand, Oligodontia, Clinodactyly, Brachy... |
OMIM:600325 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Cerebell... |
OMIM:607346 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Right ventricular dilatation, Left... |
OMIM:614022 |
Miller-Dieker Syndrome |
|
Polyhydramnios, Omphalocele, Clinodactyly of the 5th finger, Abnormal upper lip morphology |
ORPHA:531 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly |
OMIM:617862 |
Pettigrew Syndrome |
|
Gait ataxia, Spasticity, Ventriculomegaly, Choreoathetosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:304340 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Abnormality of the s... |
ORPHA:90117 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Subependymal cysts, Lateral ventricle dilatation, Cardiomyopathy |
OMIM:600721 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:616198 |
Lissencephaly 8 |
|
Retrocerebellar cyst, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Agyri... |
OMIM:617255 |
Peho-Like Syndrome |
|
Ventriculomegaly, Lissencephaly, Pachygyria, Cerebellar atrophy, Polymicrogyria |
OMIM:617507 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Increased CSF protein concentration, Retinal degeneration, Congestive heart f... |
OMIM:266500 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Cleft soft palate, Long philtrum, Bicuspid aortic valve, Gingival overgrowth, Cli... |
OMIM:618529 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Short philtrum, Atrial septal defect, Inguinal hernia, Narrow mout... |
ORPHA:352490 |
Lujo Hemorrhagic Fever |
|
Hypotension, Cerebral edema, Fulminant hepatitis, Facial edema, Elevated hepatic transaminase, Su... |
ORPHA:319213 |
Coffin-Lowry Syndrome |
|
Tapered finger, Coxa valga, Pectus excavatum, Everted lower lip vermilion, Narrow palate, Hyperex... |
OMIM:303600 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
8P23.1 Duplication Syndrome |
|
Long philtrum, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Thick vermilion... |
ORPHA:251076 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... |
OMIM:610198 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Cleft upper lip, Short 5th finger, Ventricular septal defect, Perimembranous ventricular septal d... |
OMIM:600987 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:85179 |
Hernia, Double Inguinal |
|
Inguinal hernia |
OMIM:142350 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
OMIM:617127 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Submucous cleft har... |
ORPHA:3426 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Spasticity, Parkinsonism, Truncal ataxia, Abnormal autonomic nervous sy... |
OMIM:109150 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Abnormal mus... |
OMIM:175700 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Short 5th finger, Micrognathia, Narrow mouth, Abnormal heart morphology, Cleft p... |
OMIM:239800 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Abnormal cerebellum morphology, Supraventricular arrhythmia, Distal lower limb muscle weakness, L... |
ORPHA:320360 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... |
ORPHA:99105 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Ventricular septal defect, Bifid uvula, Hypertrophic cardiomyopathy, Pr... |
OMIM:612938 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Abnormal nerve conduction velocity, Pos... |
OMIM:619862 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Cerebellar hypoplasia, Babinski sign, Pachygyria, Facial palsy |
OMIM:608840 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Patent foramen ovale, F... |
OMIM:616866 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Short philtrum, Downturned corners of mouth, Ap... |
ORPHA:94066 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip, Ventricular septal defect |
OMIM:214300 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Retinal peau d'orange, Optic disc drusen, Angioid... |
OMIM:264800 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles |
OMIM:609500 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Hydrops fetalis, Splenomegaly, Decreased beta-galactosidase activity, Congestive ... |
OMIM:230500 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Hip subluxation, Muscle fiber atrophy, Elbow flexion contracture, Hip dislocation, Pectus excavat... |
ORPHA:1900 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Pulmonary edema, Abnormal EKG,... |
ORPHA:330001 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Cervical ribs, Hypoplasia of right ventricle, Pulmonary artery steno... |
ORPHA:2255 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Gray matter heterotopia, Abnormality of neuronal migration, Cerebral he... |
OMIM:300049 |
Spinocerebellar Ataxia 50 |
|
Chorea, Froment sign, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Hea... |
OMIM:620158 |
Spinocerebellar Ataxia 44 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy |
OMIM:617691 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the liver, Missing ribs, Anal atresia, Abnormal pelvic girdle bone morphology, Oli... |
ORPHA:1834 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr... |
OMIM:619028 |
Sandhoff Disease |
|
Cherry red spot of the macula, Congestive heart failure, Splenomegaly, Hepatomegaly |
ORPHA:796 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Generalized amyotrophy, Dilated cardiomyopathy, Cerebellar atrophy, Arrhythmia, Proximal amyotrop... |
OMIM:615084 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Abnormality of the liver, Congestive heart failure, Abnormal circulating e... |
ORPHA:132 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Ventriculomegaly, Optic atrophy, Inability to walk, Rigidity, Myoclonus, Gait disturbance, Hypert... |
OMIM:618241 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... |
ORPHA:1354 |
Behr Syndrome |
|
Cerebellar vermis atrophy, Optic atrophy, Progressive spasticity, Truncal ataxia, Gait disturbanc... |
OMIM:210000 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... |
OMIM:212138 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Crowded maxillary incisors, Hip dysplasia, Anal atresia, Inguinal hernia, Congenit... |
ORPHA:2063 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Babinski sign, Dysmetria, Loss of amb... |
OMIM:618088 |
3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Biventricular hypertrophy, Cerebellar dysplasia |
OMIM:250951 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Limb hypertonia, Pericardial effusion, Aortic aneurysm, Atrial septal defect, Mul... |
OMIM:620070 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Microdontia, Elbow flexion contracture, Hi... |
OMIM:245600 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin, Ventriculomegaly |
OMIM:206570 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Stroke-like episode, Ab... |
ORPHA:70472 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Hypoplastic ilia, Short ribs, Inguinal hernia, Edema, Stillbirth... |
OMIM:600972 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:618228 |
Spinocerebellar Ataxia 5 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunction, Incoordination, Dys... |
OMIM:600224 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Abnormal oral cavity morphology, Clinodactyly of the 5th finger, Short ... |
ORPHA:1516 |
Transient Neonatal Diabetes Mellitus |
|
Abnormal heart morphology, Macroglossia, Umbilical hernia, Dehydration |
ORPHA:99886 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Perip... |
OMIM:302800 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Ventriculomegaly, Ventri... |
ORPHA:2772 |
Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul... |
ORPHA:563 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Wide mouth, Toe syndactyly, Short ph... |
OMIM:619648 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Ventricular septal defect, Deep philtrum, Widely spaced teeth, 3-4 ... |
OMIM:612530 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Abnormality of the philtrum, High palate, Dela... |
ORPHA:2863 |
Catel-Manzke Syndrome |
|
Short toe, Cleft upper lip, Pierre-Robin sequence, Ventricular septal defect, Short metacarpal, H... |
OMIM:616145 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Ventriculomegaly, Increased CSF protein concentration |
OMIM:611722 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval, Petechiae, Pericardial effusion |
ORPHA:231111 |
Spinocerebellar Ataxia 13 |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Abnormal pyramidal sign, Optic atro... |
OMIM:605259 |
Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Spina bifida o... |
OMIM:617877 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ventriculomegaly, Abnormal brainstem morphology, Abnormal cerebellum morphology, Abnormal CSF pyr... |
ORPHA:255182 |
Spinocerebellar Ataxia Type 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Oculomotor apraxia, Ataxia, Dysmetria... |
ORPHA:208513 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Dysdiadochokinesis, Progressive gait ataxia, Truncal ataxia, Dysmetria, Slurred speec... |
ORPHA:352403 |
Spinocerebellar Ataxia 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Trunca... |
OMIM:117360 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Diaphragmatic eventration, Ventricular septal defec... |
OMIM:601186 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of car... |
OMIM:269250 |
Familial Thyroid Dyshormonogenesis |
|
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abno... |
ORPHA:95716 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Elevated circulating alanine aminotransferase concentration, Microves... |
OMIM:212140 |
Lowry-Maclean Syndrome |
|
Midgut malrotation, Talon cusp, Atrioventricular canal defect, Delayed eruption of primary teeth,... |
ORPHA:2409 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Hand tremor, Sensory axonal... |
ORPHA:98764 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormality of small intestinal villus morphology, Pericardial effusion, Abn... |
ORPHA:90362 |
Hemangioblastoma |
|
Cerebellar edema, Dysesthesia, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
Hydrocephalus, Congenital, X-Linked |
|
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum |
OMIM:307000 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Broad clavicles, Bicuspid aortic valve,... |
ORPHA:371428 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar vermis atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy |
OMIM:614229 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Hepatic failure, Flexion contracture, Predominantly lower limb lymphedem... |
ORPHA:261519 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Cor triatrium sinister, Pericardial effusion, Patent urachus, Biventricular h... |
OMIM:618280 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Missing ribs, Hypoplasia of the ulna, ... |
ORPHA:3186 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... |
ORPHA:199241 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Ataxia-Pancytopenia Syndrome |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Ataxia, Babinski sign, Dysmetria, ... |
OMIM:159550 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Toe syndactyly, Hepatoblastoma, Pectus excavatum, Hepato... |
ORPHA:373 |
Colonic Atresia |
|
Omphalocele, Gastroschisis, Abdominal situs inversus, Abnormality of mesentery morphology |
ORPHA:1198 |
Immunodeficiency 87 And Autoimmunity |
|
Atrioventricular canal defect, Necrotizing enterocolitis, Pleural effusion, Biventricular hypertr... |
OMIM:619573 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:2182 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Xp22.13P22.2 Duplication Syndrome |
|
2-3 toe syndactyly, Tapered finger, Small hand, High palate, Pectus excavatum, Congenital diaphra... |
ORPHA:284180 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Bicuspid a... |
ORPHA:329224 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Optic atrophy, Hydrocephalus, Hemiplegia/hemip... |
ORPHA:588 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Poor fine motor coordination, Optic atrophy, Truncal ataxia, Upper motor neuron dysfunction, Babi... |
ORPHA:137898 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar vermis atrophy, Optic atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia,... |
OMIM:614877 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Huntington Disease |
|
Gait ataxia, Chorea, Rigidity, Cerebellar atrophy, Bradykinesia |
OMIM:143100 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Omphalocele, Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
Hemimegalencephaly |
|
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Polymicrogyria |
ORPHA:99802 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Bifid tongue, Camptodactyly, Cleft palate, Gingival overgrowth, Tricuspi... |
OMIM:616894 |
Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene... |
OMIM:311300 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia |
OMIM:617021 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Macroglossia, Absent ossification of capital femoral epiphysis, Abno... |
ORPHA:226313 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyp... |
ORPHA:90065 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
CSF pleocytosis, Ataxia, Dysmetria, Cerebellar atrophy, Increased CSF lactate |
OMIM:618384 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Hypoplastic acetabulae, Delayed eruption of teeth, Sinus tachycardia, Flared... |
OMIM:253200 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Advanced eruption of teeth, Atherosclerosis, Abnormality of skeletal muscle fiber siz... |
ORPHA:2348 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia, Ventricular septal defect, Small hand, Wide mouth, Bicuspid aortic ... |
OMIM:617450 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Horizontal ribs, Bifid tongue, Cleft palate, Narrow greater sciatic notch, Short rib... |
OMIM:616300 |
Halperin-Birk Syndrome |
|
Flexion contracture, Ventriculomegaly, Optic atrophy, Perimembranous ventricular septal defect, P... |
OMIM:618651 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, High pala... |
ORPHA:40366 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Cleft upper lip, Telangiectasia, High palate, Ven... |
OMIM:612582 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
Tetralogy Of Fallot |
|
Thin vermilion border, Tetralogy of Fallot |
ORPHA:3303 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral hypoplasia of pectoralis major muscle, Unilateral... |
OMIM:173800 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Right bundle branch block, Flexion contracture, Sinus tachycardi... |
OMIM:614008 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Loss of Purkinje cells in the cerebellar vermis, Spastic ... |
OMIM:616795 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Shoulder dislocation, Carotid artery stenosis, Ventral hernia, High palate,... |
OMIM:618000 |
Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... |
ORPHA:399103 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... |
ORPHA:26793 |
Aicardi Syndrome |
|
Dilated third ventricle, Gray matter heterotopia, Chiari malformation, Lateral ventricle dilatati... |
OMIM:304050 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, High palate, Ventricular septal defect, Camptodactyly, Clinodactyly of the ... |
OMIM:617602 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Pectus carinatum, Hypoplasia of... |
ORPHA:958 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ... |
OMIM:615959 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Toe syndactyly, Camptodactyly, Radial deviation of finger, Cleft palate, Rocker b... |
OMIM:256520 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:95706 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Dilated third ventricle, Atrophy/Degeneration affecting the brainstem, Abnorm... |
ORPHA:314404 |
Aicardi-Goutieres Syndrome 4 |
|
Spasticity, Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Cerebellar atrophy |
OMIM:610333 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, High palate, Pectus excavatum, Congenital diaphragmatic hernia, Coronary-pu... |
OMIM:619699 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Limb-girdle muscle weakness, Weakness of long finger extensor muscles, Wrist drop, Weakness of th... |
ORPHA:98912 |
Pagod Syndrome |
|
Sudden cardiac death, Meningocele, Abnormal aortic morphology, Encephalocele, Spina bifida, Hypop... |
ORPHA:991 |
Anencephaly 2 |
|
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip |
OMIM:619452 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Jaundice, Hydrocephalus, Elevated hepatic transaminase, Abnormality of retinal ... |
ORPHA:858 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:301043 |
Orofaciodigital Syndrome Xvii |
|
Retrognathia, Short middle phalanx of the 2nd finger, Median cleft lip, Tetralogy of Fallot, High... |
OMIM:617926 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Abnormality of neuronal migration, 4-layered lissencephaly, Atrial septal d... |
ORPHA:89844 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Polyhydramnios, Flexion contracture, Diastasis recti, Coat hanger sign... |
ORPHA:254528 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Contractures of the large joints, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Tricuspid regurgitation, Pulmonic stenosis, Perimemb... |
OMIM:611376 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure, Stillbirth, Death in ad... |
OMIM:619751 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Pachygyria |
OMIM:248360 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Right aortic arch, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Short 5th m... |
OMIM:169400 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, High palate, Atrial septal defect, Sandal gap, Arachnodactyly, Umbilical hernia |
ORPHA:1035 |
Mucopolysaccharidosis, Type Ii |
|
Splenomegaly, Flexion contracture, Delayed eruption of teeth, Widely spaced teeth, Thick lower li... |
OMIM:309900 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Wild Type Abeta2M Amyloidosis |
|
Abnormal tendon morphology, Abnormality of the thenar eminence, Macroglossia, Congestive heart fa... |
ORPHA:85446 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:262767 |
Intellectual Disability, Wolff Type |
|
Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Microretrognathia, Sho... |
ORPHA:3080 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Charlie M Syndrome |
|
Non-midline cleft lip, Micrognathia, Short philtrum, Narrow mouth, Tooth agenesis, Thin vermilion... |
ORPHA:1406 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Asymmetric septal hypertrophy, Inguinal hernia, Hepatomegaly, Splenomegaly, Umbil... |
OMIM:252900 |
Chromosome 10Q26 Deletion Syndrome |
|
Patent ductus arteriosus, High palate, Long philtrum, Toe syndactyly, Clinodactyly of the 5th fin... |
OMIM:609625 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Metatarsal osteolysis, Hypertension, Metacarpal osteolysis, Congenital diaphragmatic hernia, Carp... |
OMIM:166300 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Femoral hernia, Short foot, Long philtrum, Short thorax, Multipl... |
ORPHA:93299 |
Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Bifid uvula, Camptodactyly, Pectus excavatum, Spina bifida occulta, Thoracolumbar... |
OMIM:300373 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Ventriculomegaly |
OMIM:300209 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Femoral hernia, Long philtrum, Short thorax, Narrow chest, Abnor... |
ORPHA:93298 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Inguinal hernia, Umbilical hernia, Accessory oral frenulum |
ORPHA:1373 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Impaired vibration sensation in the lower limbs, Spasticity, Onion bulb formation, Cerebellar ver... |
OMIM:270550 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia |
OMIM:608097 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Perimembranous ventricular septal defect, Left-to-rig... |
ORPHA:363444 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Macroglossia, Myopathy, Skeletal muscle hypertrophy, Umbilical hernia |
ORPHA:2349 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... |
OMIM:108900 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Micrognathia, Narrow mouth, Cleft lip, Cleft palate, Br... |
ORPHA:398156 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Long philtrum, Petechiae, Jaundice, ... |
OMIM:251290 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Cerebellar ver... |
OMIM:619111 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
High palate, Macroglossia, Elevated circulating alkaline phosphatase concentration, Inguinal hern... |
OMIM:616025 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Wi... |
OMIM:619717 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Limb ataxia, Ataxia, Periph... |
OMIM:133190 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Gait ataxia, Motor axonal neuropathy, Spastic paraplegia, Babinski sign, Lower limb spasticity, C... |
ORPHA:139480 |
Noonan Syndrome 12 |
|
Polyhydramnios, Ventricular septal defect, Ventriculomegaly, Supravalvular aortic stenosis, Tetra... |
OMIM:618624 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Congestive heart failure, Oligohydramnios, Perica... |
ORPHA:163596 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Cong... |
OMIM:309801 |
Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip |
OMIM:223200 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Diastasis recti, Elevated circulating alkaline phosphatase concentration,... |
OMIM:606893 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia |
ORPHA:401815 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft palate, Cleft upper lip, High palate, Ventricular septal defect |
OMIM:609654 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:618302 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum... |
OMIM:225790 |
Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, Ventricular septal defect, Short middle phal... |
OMIM:614326 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Abnormal he... |
ORPHA:36412 |
Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplasia of the pons, Dandy-Walker malformation, Lateral ventricle dilatation, Cerebellar vermi... |
OMIM:618606 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... |
ORPHA:98772 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Camptodactyly, Ventriculomegaly, Perimembranous ventricular s... |
OMIM:618804 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Chiari type I malformation,... |
OMIM:619575 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Abnormality of neuronal migration, Abnormal cerebellum morphology, Ventriculomegaly, ... |
OMIM:300957 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Rod-cone dystrophy, Retinal thinning, Bicuspid aortic valve, Intrahepatic bile ... |
OMIM:618955 |
Czeizel-Losonci Syndrome |
|
High palate, Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Clubbing of toes, Tracheoesop... |
ORPHA:2437 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Hydrocephalus, Ventriculomegaly |
ORPHA:500055 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thal... |
OMIM:617542 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Ventriculomegaly |
ORPHA:168624 |
Spinocerebellar Ataxia 28 |
|
Gait ataxia, Somatic sensory dysfunction, Spasticity, Parkinsonism, Limb ataxia, Babinski sign, C... |
OMIM:610246 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Hip dislo... |
OMIM:309350 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Aortic regurgitation, Adducted thumb, Arachnodactyly, High, narrow palate, ... |
ORPHA:2181 |
Polydactyly-Myopia Syndrome |
|
Inguinal hernia, Femoral hernia |
ORPHA:2917 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Dilated cardiomyopathy, Hepatomegaly, Cerebellar hypoplasia |
OMIM:618805 |
3Mc Syndrome 1 |
|
Patent ductus arteriosus, Cleft upper lip, Diastasis recti, Short 5th finger, Ventricular septal ... |
OMIM:257920 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Wide mouth, Deep philtrum, Clinodactyly of the 5th finger, Short philtrum, Inguinal hernia, Narro... |
OMIM:615834 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragg... |
ORPHA:1349 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Prominent superficial veins, Hepatic hemangioma, Peripheral arterioveno... |
ORPHA:141184 |
Donnai-Barrow Syndrome |
|
Short sternum, Ventricular septal defect, Diaphragmatic eventration, Intestinal malrotation, Cong... |
OMIM:222448 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Ventricular sept... |
OMIM:618454 |
Malan Overgrowth Syndrome |
|
Hypoplasia of the brainstem, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:420179 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Arrhyth... |
ORPHA:352447 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Perisylvian polymicrogyria, Anterior hypopituitarism, Central diabetes i... |
ORPHA:280195 |
Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Bile duct prolifera... |
OMIM:603194 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Cervi... |
OMIM:312870 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Ventriculomegaly, Cerebellar hypoplasia, Ataxia, Pachygyria, Agenesi... |
ORPHA:255138 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Ventricular septal defect, Long philtrum, Micrognathi... |
ORPHA:2209 |
Chromosome 18Q Deletion Syndrome |
|
Ascending tubular aorta aneurysm, Toe syndactyly, Bifid uvula, Overlapping toe, Cleft palate, Roc... |
OMIM:601808 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Abnormal aortic valve morphology, Hand polydactyly, Atrial septal defect, Conge... |
ORPHA:261197 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation, Cerebellar hyp... |
ORPHA:3078 |
Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Short toe, Ventricular septal defect, Finger syndactyly, Long philtrum,... |
ORPHA:1519 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Meningocele, Missing ribs, Duodenal stenosis, Intestinal malrotation, De... |
ORPHA:1759 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Vascular tortuosity, Oligohydramnios, Supravalvular aortic sten... |
OMIM:219100 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Flexion contracture, Multiple joint contractures, Camptodactyly, Hip dislocation, Dislocated radi... |
OMIM:265000 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Cleft upper lip, Patellar aplasia, Ventricular... |
ORPHA:96167 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98855 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Spasticity, Abnormal pyramidal sign, Degeneration of anterior horn cell... |
ORPHA:276244 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Biliary atresia, Rectal fistula, Ventricular septal defect, Rectal atre... |
OMIM:115470 |
Cantú Syndrome |
|
Patent ductus arteriosus, Coxa valga, Finger syndactyly, Abnormal metaphysis morphology, Long phi... |
ORPHA:1517 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Arrhythmia, Nar... |
ORPHA:157973 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Flared iliac wing, Short hallux, Abn... |
ORPHA:90652 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98853 |
Mucopolysaccharidosis, Type Vii |
|
Genu valgum, Flexion contracture, Hydrops fetalis, Splenomegaly, Pectus carinatum, Widely spaced ... |
OMIM:253220 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy |
OMIM:606658 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Intellectual Disability-Strabismus Syndrome |
|
Patent ductus arteriosus, Congenital finger flexion contractures, Polyhydramnios, High palate, Jo... |
ORPHA:363528 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathia, Hand oligodac... |
OMIM:602418 |
Familial Aortic Dissection |
|
Aortic root aneurysm, Patent ductus arteriosus, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Minim... |
ORPHA:280365 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip... |
OMIM:607598 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Shoulder dislocation, Hallux valgus, Pericardial effusion, Hip dislocation, Pectus excavatum, Pro... |
ORPHA:536532 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Camptodactyly, Pleural effusion, Edema, Ar... |
OMIM:617822 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Abnormal cerebellar vermis morphology, Dilated third ventricle, Dysplastic corpus callosum, Later... |
ORPHA:544488 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hepatosplenomegaly, Abnormal metaphysis morphology, Gingival overgrowth,... |
ORPHA:354 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Orofacial cleft |
ORPHA:85287 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
Spinocerebellar Ataxia Type 18 |
|
Gait ataxia, Somatic sensory dysfunction, Titubation, Dysmetria, Head tremor, Peripheral axonal n... |
ORPHA:98771 |
Distal Monosomy 15Q |
|
Bifid tongue, Abnormal cardiac septum morphology, Hip dislocation, Abnormal aortic arch morpholog... |
ORPHA:1596 |
Macdermot-Winter Syndrome |
|
Ventriculomegaly |
OMIM:247990 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Skeletal muscle hypertrophy, Flexion contracture of toe, A... |
OMIM:255800 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Onion bulb formation, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclon... |
OMIM:614487 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Anencephaly, Atrial septal defect... |
OMIM:616546 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Abdominal aortic calcification, Hypertension, Congestive heart fail... |
OMIM:208000 |
Hurler Syndrome |
|
Flexion contracture, Coxa valga, Microdontia, Flared iliac wing, Hepatosplenomegaly, Hypoplasia o... |
OMIM:607014 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Microdontia, Atrial septal defect, Congenital diaphragmatic hernia, Thin u... |
ORPHA:1915 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia, Lateral ventricle dilatation |
OMIM:614105 |
Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Short thorax, Long philtrum, Inguinal hernia, Narrow chest, Umbi... |
ORPHA:932 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Hepatocellular carcinoma, Congestive heart failure, Elevated hepatic t... |
OMIM:235200 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Abnormality of retinal pigmentation |
ORPHA:397951 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Spinal dysraphi... |
ORPHA:1926 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Chiari malformation, Ventriculomegaly, Abnorma... |
ORPHA:2481 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:3097 |
Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Stillbirth |
OMIM:276950 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Atrial Standstill 1 |
|
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... |
OMIM:108770 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:619180 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Anomalous origin of left pulmonary artery from ascending aorta, ... |
ORPHA:99050 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Encephalocele, Ventricular septal defect, ... |
OMIM:264480 |
Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Congestive heart failure, EMG: myopathic abnormalities, Myositis, Muscle fibe... |
ORPHA:206569 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Tetralogy of Fallot, Microretrognathia, Abnormality of the dentition |
ORPHA:276422 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... |
OMIM:600858 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly |
ORPHA:1188 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Polyhydramnios, Enterocolitis, Ventricular septal defect, Jejunal atresia, Int... |
OMIM:243150 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Micrognathia, Short di... |
ORPHA:2516 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Hydrocephalus, Bicuspid aortic valve |
OMIM:615599 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio... |
OMIM:610688 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Coronary artery atherosclerosis, Atherosclerosis, Abnormality of skeletal muscle fiber... |
ORPHA:79083 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
Myopathy With Extrapyramidal Signs |
|
Chorea, Cerebellar dysplasia, Perisylvian polymicrogyria, Ventricular septal defect, Optic atroph... |
OMIM:615673 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia |
ORPHA:488635 |
Naxos Disease |
|
Sudden cardiac death, Cleft upper lip, Paroxysmal ventricular tachycardia, Congestive heart failu... |
ORPHA:34217 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Ventriculomegaly, Agenesis of corpus callosum |
OMIM:618286 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Ragged-red muscle fibers, Congestive heart failure |
OMIM:616794 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle, High palate, Ventricular septal defect, Long... |
OMIM:616652 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Bruising susceptibility, Ging... |
ORPHA:77259 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... |
OMIM:126320 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Tapered finger, High palate, Hip dysplasia, Short philtrum, Thin upper lip vermilion, Narrow mout... |
OMIM:616977 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Macrocephaly, Benign Familial |
|
Ventriculomegaly |
OMIM:153470 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Polyhydramnios, Coxa valga, Ventricular septal defect, Pulmonary a... |
OMIM:301056 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Congestive heart failure, Hepatic bridging... |
ORPHA:139507 |
Lhermitte-Duclos Disease |
|
Enlarged cerebellum, Hydrocephalus, Ataxia, Polymicrogyria |
ORPHA:65285 |
Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Hernia, Ventricular septal defect, Narrow palate,... |
ORPHA:3380 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy |
OMIM:618093 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Ventriculomegaly |
OMIM:617051 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia |
OMIM:606703 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Cardiac arrest, Metatarsus adductus, Pectus ... |
OMIM:212720 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Polyhydramnios, Decreased muscle mass, Wide mouth, Congestive heart failure, Atrial septal defect... |
ORPHA:500533 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm |
OMIM:618901 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Flared iliac wing, Increased iduronate sulfatase level, Camptodactyl... |
OMIM:252500 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Symmetrical Thalamic Calcifications |
|
Spasticity, Abnormality of neuronal migration, Ataxia, Hypertonia |
ORPHA:1314 |
Neuronal Intranuclear Inclusion Disease |
|
Increased CSF protein concentration, Syncope, Ventriculomegaly, CSF pleocytosis |
OMIM:603472 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Retrocerebellar cyst, Ventriculomegaly, Cerebellar hypoplasia, Partial absence of cerebellar verm... |
ORPHA:137831 |
Congenital Hypothyroidism |
|
Hypotension, Abnormal pericardium morphology, Prolonged neonatal jaundice, Hypertension, Macroglo... |
ORPHA:442 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Long philtrum, Atrial septal defect, Thin upper li... |
ORPHA:401935 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Ataxia-Oculomotor Apraxia 3 |
|
Oculomotor apraxia, Ataxia, Dysmetria, Peripheral axonal neuropathy, Frequent falls, Cerebellar a... |
OMIM:615217 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Fryns Syndrome |
|
Polyhydramnios, Thoracic hypoplasia, Camptodactyly, Cleft palate, Aplasia of the left hemidiaphra... |
OMIM:229850 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Thyroid Hemiagenesis |
|
Jaundice, Macroglossia, Umbilical hernia |
ORPHA:95719 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the brainstem, Abnormality of thalamus morphology, Normal pressure hydrocephalus, L... |
ORPHA:300570 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Ventriculomegaly, Hydrocephalus, Atrial situs ambiguous, Anomalous... |
ORPHA:244 |
Polymyositis |
|
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Abnormal muscle fiber mor... |
ORPHA:732 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Long philtrum, Toe syndactyly, Radioulnar synostosis, Thin vermilion bo... |
ORPHA:171839 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Peripheral axonal degeneration, Truncal... |
OMIM:208920 |
Alg9-Cdg |
|
Pericardial effusion, Abnormal left ventricular outflow tract morphology, Bifid uvula, Hypoplasia... |
ORPHA:79328 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Lymphedema, Arteriovenous malformation, Cerebral arteriovenous... |
ORPHA:137667 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Abnormal pyramidal sign, Tip-... |
ORPHA:397946 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Morgagni diaphragmatic hernia, Supernumerary... |
OMIM:613309 |
Rin2 Syndrome |
|
Irregular dentition, Abnormal sternum morphology, High palate, Long philtrum, Abnormal lip morpho... |
ORPHA:217335 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating alanine aminotransferase concentration, Perimembranous ventricular septal de... |
OMIM:608779 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... |
OMIM:617616 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short ribs, Narrow chest, Abnormal diaph... |
ORPHA:2021 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Bradycardia, Atrial fibrillation |
OMIM:613087 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Abnormal lo... |
ORPHA:52430 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Ventriculomegaly, Abnormal brainstem morphology, Cerebellar cyst, Agyria, Cerebellar vermis hypop... |
ORPHA:370997 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, High palate, Ventricular septal defect, Wide mouth, Widely spaced teeth, Cl... |
ORPHA:369891 |
Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Spasticity, Abnormal pyramidal sign, Progressive gait ataxia, Clumsines... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Spasticity, Abnormal pyramidal sign, Progressive gait ataxia, Clumsines... |
ORPHA:276241 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect, Ventriculomegaly, Death in infancy, Hepatomegaly, Opti... |
OMIM:613730 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... |
OMIM:609270 |
Distal Myotilinopathy |
|
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal... |
ORPHA:98911 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... |
OMIM:619343 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Abnormal left ve... |
OMIM:300845 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Somatic sensory dysfunction, Spasticity, Myelomeningocele, Aqueductal stenosis, Vent... |
ORPHA:1136 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Polyhydramnios, Flexion contracture, Coxa valga, Thoracic hypoplasia, Spinal dysraph... |
ORPHA:96334 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Frontal encephaloc... |
OMIM:218670 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Abnormal tendon morphology, Hernia, Enlarged thorax, Widely spaced teeth, Thick low... |
ORPHA:579 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Atrial septal defect, Progressive flexion contractures, Broa... |
ORPHA:93932 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial effusion, Thyroid lymphangiectasia, Camptodactyly, Nonimmu... |
OMIM:235510 |
Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Tapered finger, Long philtrum, Pericardial effusion, Abnormal thorax mo... |
ORPHA:1272 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:614654 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Necrotizing Enterocolitis |
|
Hypotension, Gastroschisis, Peritonitis, Shock, Edema, Abnormal heart morphology, Ascites, Bradyc... |
ORPHA:391673 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Ventriculomegaly, Optic atrophy, Cerebellar hypoplasia, Periventricular heterotopia, ... |
OMIM:618476 |
Opitz Gbbb Syndrome |
|
Ectopic anus, Cleft palate, Aortic root aneurysm, Patent foramen ovale, Ventricular septal defect... |
ORPHA:2745 |
Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip, Encephalocele |
OMIM:168500 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Tremor, Cerebellar atrophy |
OMIM:616494 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Hemiparesis... |
OMIM:604317 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Dysdiadochokinesis, Cerebellar hypoplasia, Spastic dysarthria, Oculomotor apraxia, My... |
ORPHA:313772 |
Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Long philtrum, Meckel diverticulum |
OMIM:190440 |
Carpenter Syndrome |
|
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... |
ORPHA:65759 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Mandibular prognathia, Widely-spaced maxillary central incisors, Cleft palate, O... |
OMIM:601349 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal bleeding, Intestinal lymphangiectasia, Generalized edema |
OMIM:207731 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Joint contracture of the hand, Camptodactyly, Limb undergrowth, Micromelia, Clef... |
OMIM:601016 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Joubert Syndrome |
|
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Oculomotor apraxia, Hydr... |
ORPHA:475 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... |
ORPHA:1880 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... |
ORPHA:3405 |
Hardikar Syndrome |
|
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac... |
OMIM:301068 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... |
ORPHA:2184 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Splenomegaly, Flexion contracture, Vascular dilat... |
OMIM:613327 |
Spinocerebellar Ataxia 10 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Abnormality of extrapyramidal motor fun... |
OMIM:603516 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial infarction, Premature coron... |
OMIM:615703 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Atriove... |
OMIM:614407 |
Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Tetralogy of Fallot, ... |
ORPHA:1913 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615996 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, High palate, Inguinal hernia, Stroke-like episode, Skeletal musc... |
OMIM:619272 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Abnormal EKG, Calf muscle hypertrophy, Muscular dy... |
OMIM:310200 |
Arterial Tortuosity Syndrome |
|
Coxa valga, Abnormal carotid artery morphology, Cardiac arrest, Hip dislocation, Hypertrophic car... |
ORPHA:3342 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Gait ataxia, Ataxia, Optic nerve hypoplasia, Dysmetria, Cerebellar atrophy |
OMIM:614306 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Hyperextensibility of the finger joints, Mitral valve prolapse, Bruising su... |
OMIM:130000 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Thick lower lip vermilion, Atria... |
OMIM:612946 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Congenital diaphragmatic hernia, Elbow flexion contracture |
OMIM:618022 |
American Trypanosomiasis |
|
Achalasia, Aganglionic megacolon, Congestive heart failure, Arrhythmia, Edema, Hepatomegaly, Peri... |
ORPHA:3386 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Spasticity, Inability to walk, Abnormal cerebellar vermis morphology, C... |
ORPHA:357058 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:602501 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Gait ataxia, Cerebellar vermis atrophy, Axonal loss, Abnormal autonomic nervous system physiology... |
OMIM:614575 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Cardiac arrest, Agenesis of corpus cal... |
OMIM:300952 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spasticity, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper moto... |
OMIM:215470 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebellar vermis, Da... |
ORPHA:163961 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Spasticity, Optic atrophy, Ataxia, Babinski sign, Dysmetria, Decreased nerve conduction velocity,... |
OMIM:612674 |
Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnor... |
ORPHA:980 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Cerebellar atrophy |
OMIM:612020 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Optic atrophy, Postural trem... |
OMIM:615491 |
Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Abnormal cardiac septum morphology, Toe syndactyly, ... |
OMIM:200990 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Lymphedema, Intussusception, Malabsorption, Volvulus, Intestinal lymphedema, Pleural e... |
ORPHA:90363 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Flexion contracture, Micrognathia, Short finger, Amyoplasia, Cleft palate, Hypop... |
OMIM:312150 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Hypertension, Dilated cardiomyopathy, ... |
ORPHA:280679 |
Hec Syndrome |
|
Cardiomyopathy, Polyhydramnios, Communicating hydrocephalus, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Poland Syndrome |
|
Spina bifida occulta, Abnormal rib morphology, Absent hand, Absence of subcutaneous fat, Abnormal... |
ORPHA:2911 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Short toe, Aortic root aneurysm, Deep philtrum, Atrial septal defect, S... |
ORPHA:404443 |
Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hallux valgus, Toe syndactyly, Hip dislocation, Overlapping toe, Broad hallux, Radi... |
OMIM:154400 |
Juvenile Sialidosis Type 2 |
|
Cherry red spot of the macula, Hepatosplenomegaly, Inguinal hernia, Protruding tongue, Abnormal h... |
ORPHA:93399 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Ventriculomegaly, Cerebral ischemia, H... |
ORPHA:60040 |
Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
Hepatocellular Carcinoma |
|
Hypotension, Pedal edema, Hemobilia, Abnormality of the liver, Liver abscess, Hepatic necrosis, J... |
ORPHA:88673 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Hypoplasia of the brainstem, Ventriculomegaly, ... |
OMIM:614643 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Pontocerebellar atrophy, Lateral ventricle dilatation |
OMIM:617854 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Vascular dilatation, Scarring, Atrial standstill, Stroke, A... |
OMIM:615745 |
Microhydranencephaly |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly, Pachygyria... |
OMIM:605013 |
Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |
Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, High palate, Abnormal cardiac septum morphology, Abnormality of dental morph... |
ORPHA:3079 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Bifid uvula, Pectus excavatum, Aortic dissection, Cleft palate, Dilatati... |
ORPHA:284984 |
Marshall-Smith Syndrome |
|
Irregular dentition, Hallux valgus, Microdontia, Pectus excavatum, Slender finger, Gingival overg... |
OMIM:602535 |
Gillespie Syndrome |
|
Ventriculomegaly, Truncus arteriosus, Cerebellar hypoplasia, Postural tremor, Ataxia, Slurred spe... |
OMIM:206700 |
Leigh Syndrome With Nephrotic Syndrome |
|
Oligohydramnios, Cardiomegaly, Generalized edema |
ORPHA:255249 |
Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Delayed eruption of teeth, Elbow flexion contracture, Dislocated radial head,... |
OMIM:122470 |
Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Polyhydramnios, Polydactyly, Joint contracture of the hand, Delayed er... |
OMIM:247200 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Death in infancy, Elevated hepatic transaminas... |
OMIM:611126 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Hydrocephalus, Optic atrophy |
OMIM:300884 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Poor coordination, Atrial septal defect, Ata... |
ORPHA:261183 |
Primary Lipodystrophy |
|
Cirrhosis, Type IV atherosclerotic lesion, Pancreatitis, Angina pectoris, Congestive heart failur... |
ORPHA:90970 |
Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Short foot, Joint contracture of ... |
OMIM:231050 |
3-Hydroxyisobutyric Aciduria |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly |
ORPHA:939 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Long philtrum, Inguinal hernia, Thin upper lip vermilion, Smooth philtrum, Umbilical... |
OMIM:613544 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Increased CSF lactate, Hypertrophic cardiomyopathy, Neonatal death, Death in infancy |
OMIM:617184 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy |
ORPHA:79230 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Gray matter heterotopia, Aqueductal stenosis... |
OMIM:619895 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Triceps weakness, Tho... |
ORPHA:70 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture |
OMIM:618120 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Torticollis, ... |
ORPHA:98759 |
Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation, Pericardial effusion, Left ventricular hypertrophy, Hypertension, P... |
OMIM:619487 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Patent ductus arteriosus, Polyhydramnios, Anal stenosis, High palate, Long philtrum, Anal atresia... |
OMIM:614080 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, High palate, Decreased liver function, Dilatation of the cerebral artery, Esophageal v... |
OMIM:613658 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy... |
ORPHA:91131 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Hamartoma of tongue, Complete atrioventricular canal defect, Coarcta... |
OMIM:217085 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Short 5th finger, Ventricular septal defect, Bicu... |
ORPHA:500159 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Fetal Akinesia Deformation Sequence 3 |
|
Rocker bottom foot, Overlapping fingers, Generalized edema |
OMIM:618389 |
Developmental And Epileptic Encephalopathy 95 |
|
Low alkaline phosphatase, Short 4th metacarpal, Multiple joint contractures, Deep philtrum, Widel... |
OMIM:618143 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Hypertension, Peripheral edema |
ORPHA:79126 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip |
ORPHA:2007 |
Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Pulmonary edema, Elevated hepatic transaminase, Internal hemorr... |
ORPHA:244242 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation |
OMIM:256850 |
Mesomelia-Synostoses Syndrome |
|
Genu valgum, Long philtrum, Abnormality of the humerus, Synostosis of carpal bones, Abnormal meta... |
ORPHA:2496 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Agyria, Lateral ventricle dilatation, Pachygyria |
ORPHA:2148 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Edema, Prolonged prothrombin time, H... |
OMIM:603553 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Hepatic ... |
ORPHA:141179 |
Meacham Syndrome |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Aplasia of the right hemidiaphragm,... |
OMIM:608978 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus |
ORPHA:759 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Short l... |
ORPHA:2326 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... |
OMIM:619566 |
Apert Syndrome |
|
Rhizomelic arm shortening, Dental malocclusion, Mandibular prognathia, Narrow palate, Ventricular... |
OMIM:101200 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Pectus excavatum, Gingival o... |
ORPHA:1507 |
Spastic Ataxia 3, Autosomal Recessive |
|
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Spastic ataxia, Ataxia, Dysmetria, Loss of am... |
OMIM:611390 |
Developmental And Epileptic Encephalopathy 54 |
|
Ventriculomegaly |
OMIM:617391 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Decreased muscle mass, Elevated jugular venous pressure, Hepatocellular carcinoma, Con... |
ORPHA:465508 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Dilated third ventricle, Agenesis of corpus callosum, Lateral ve... |
ORPHA:464738 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
High palate, Small hand, Pulmonic stenosis, Mitral valve prolapse, Clinodactyly of the 5th finger... |
ORPHA:2868 |
L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Meningocele, Decreased muscle mass, High palate, Ventricular septal def... |
OMIM:130720 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, Bradycardia,... |
ORPHA:565624 |
Kniest Dysplasia |
|
Genu varum, Dumbbell-shaped long bone, Hip contracture, Splayed epiphyses, Coxa vara, Tibial bowi... |
OMIM:156550 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hepatic failure, Wide mouth, Secundum atrial septal defect, Clinodactyly of the 5th finger, Hyper... |
OMIM:619758 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Cleft upper lip, Hydrocephalus, Intracranial hemorrhage |
ORPHA:398189 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia, Dysplastic corpus callosum |
OMIM:616490 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Pulmonary artery aneurysm, Pulmonary insufficiency, High palate, Vascular t... |
OMIM:614437 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness, Arrhythmia, Bradyca... |
OMIM:609286 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Hear... |
ORPHA:398124 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Spasticity, Abnormal pyramidal sign, Lissencephaly, Optic nerve hypoplasia, Cerebellar atrophy, D... |
OMIM:614833 |
Hunter-Macdonald Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Pseudoepiphyses, Joint contracture of the hand, Bic... |
OMIM:611962 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Inguinal hernia, Jaundice |
OMIM:245550 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Optic atrophy, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Ab... |
ORPHA:899 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Ventriculomegaly |
OMIM:300699 |
Mucolipidosis Type Ii |
|
Hip dislocation, Hepatosplenomegaly, Telangiectases of the cheeks, Gingival overgrowth, Splenomeg... |
ORPHA:576 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Small hand, Ventricular septal defect, Long philtrum, Natal tooth, Atrial s... |
OMIM:145420 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
ORPHA:464329 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Patent ductus arteriosus, Cleft upper lip, Long philtrum, Wide mouth, Bicuspid aort... |
OMIM:243310 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele, Ventriculomegaly |
OMIM:612285 |
Mucopolysaccharidosis Type 7 |
|
Enlarged thorax, Hydrops fetalis, Lymphedema, Hepatitis, Arteriovenous malformation, Epiphyseal s... |
ORPHA:584 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon contracture, Macroglossia... |
OMIM:607155 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Cerebral edema, Elevated hepatic transaminase, Conge... |
ORPHA:99901 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Ascending aortic dissection, Flexion contracture of toe, Broad phalang... |
OMIM:608328 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, 2-3 toe syndactyly, Bifid tongue, Hip dislocation,... |
ORPHA:818 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Broad thumb, Brach... |
ORPHA:1770 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Ventriculomegaly |
OMIM:618251 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Coarctation of aorta, Absen... |
OMIM:600460 |
Congenital Generalized Lipodystrophy |
|
Cirrhosis, Adipose tissue loss, Congestive heart failure, Macroglossia, Hepatic steatosis, Hypert... |
ORPHA:528 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, 2-3 toe syndactyly, Inguinal hernia, Small thenar eminence, Sandal gap, Joi... |
OMIM:618914 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Radial bowing, Lower limb undergrowth, Intestinal malrotation, Omphalocele, Abnorma... |
ORPHA:3035 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's b... |
OMIM:618506 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Aplasia/Hypoplasia of... |
ORPHA:2990 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Wide mouth, High, narrow palate, Downturned corners of mouth, Umbilical hernia |
OMIM:273390 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Ventriculomegaly, Bicuspid aort... |
OMIM:620066 |
Subependymal Nodular Heterotopia |
|
Meningocele, Gray matter heterotopia, Limb myoclonus, Myelomeningocele, Abnormality of neuronal m... |
ORPHA:101030 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Pulmonary arterial hypertension, Aortic regurgitation, Inguinal hernia, ... |
OMIM:607015 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Choreoathetosis, Ataxia, Dysmetria, ... |
OMIM:604391 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Non-midline cleft lip, Wide mouth... |
ORPHA:2549 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy |
ORPHA:91130 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Ventricular septal defect, Ventriculomegaly, Retinal degenerat... |
OMIM:615630 |
White-Sutton Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Bifid uvula, Short philtrum, Atrial ... |
OMIM:616364 |
8Q12 Microduplication Syndrome |
|
Long philtrum, Ventricular septal defect, Atrial septal defect, Everted lower lip vermilion, Narr... |
ORPHA:228399 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Wide mouth, Missing ribs, Hand polydactyly, Congenital diaphragmatic hernia, C... |
ORPHA:1647 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus, Gait disturbance, Cerebe... |
ORPHA:220497 |
Holoprosencephaly |
|
Spinal dysraphism, Median cleft lip, Tooth agenesis, Intestinal atresia, Ventricular septal defec... |
ORPHA:2162 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Pursed l... |
OMIM:241310 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Vascular ring, Ventriculomegaly, Hydrocephal... |
OMIM:603387 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy |
OMIM:609308 |
2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology, Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, Smal... |
ORPHA:1001 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Elevated hepatic transaminase, Bradycardia, Decreased liver func... |
OMIM:616299 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Persistence of primary... |
OMIM:619769 |
Trisomy 5P |
|
Ventriculomegaly |
ORPHA:1742 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation, Generalized edema, Oligohydramnios |
OMIM:249210 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Asplenia, Abnormal cardiac septum morphology, Malformation of the hepati... |
OMIM:249000 |
Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis,... |
ORPHA:2929 |
Slc35A2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Lateral ventricle dilatation, Abn... |
ORPHA:356961 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Diffuse hepatic st... |
ORPHA:746 |
Cat-Eye Syndrome (Type I) |
|
Micrognathia, Abnormal heart morphology |
DECIPHER:42 |
Mucopolysaccharidosis-Plus Syndrome |
|
Patent ductus arteriosus, Splenomegaly, Flexion contracture, Flared iliac wing, Congestive heart ... |
OMIM:617303 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Motor axonal neuropathy, Truncal ataxia, Progressive gait ataxia, Oculom... |
ORPHA:247815 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Renal Tubular Dysgenesis |
|
Polyhydramnios, Tetralogy of Fallot, Oligohydramnios |
ORPHA:3033 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft palate, Cleft upper lip, Bifid uvula, Dysplastic pulmonary valve |
OMIM:300958 |
Lambert Syndrome |
|
Malar flattening, Branchial anomaly, Ventricular septal defect, Wide mouth |
ORPHA:1296 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cardiomyopathy, Hypoplasia of the brainstem, Ventriculomegaly, Lateral ... |
ORPHA:572798 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Everted upper lip vermilion, Deep philtrum, Atrial septal defect, Mitr... |
OMIM:615879 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Hydrocephalus, Prominence of the premaxi... |
OMIM:614886 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Short philtrum, Atrial septal defect, Inguinal hernia, Muscular ventricular septal d... |
OMIM:618354 |
Codas Syndrome |
|
Short phalanx of finger, Enamel hypoplasia, Atrioventricular canal defect, Polyhydramnios, Genu v... |
OMIM:600373 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas, ... |
ORPHA:2470 |
Pallister-Hall-Like Syndrome |
|
Short ribs, Micrognathia, Hydrocephalus, Median cleft lip, Microglossia, Micromelia, Cleft palate... |
OMIM:241800 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus, Polymicrogyria, Gait dis... |
ORPHA:220493 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Cednik Syndrome |
|
Stroke, Abnormality of peripheral nerve conduction, Congestive heart failure, Optic atrophy |
ORPHA:66631 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hydrops fetalis, Rhabdomyolysis, Elevated hepatic transaminase, Dilated cardiomyopathy, Congestiv... |
OMIM:609015 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Cleft ... |
OMIM:614815 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Genu valgum, High,... |
ORPHA:2462 |
Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Abnormal thorax morphology, Abnormal lip morphology, Short ha... |
ORPHA:280 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Craniofrontonasal Syndrome |
|
Cleft upper lip, Toe syndactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Congenit... |
OMIM:304110 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus cal... |
OMIM:612863 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Polyhydramnios, Encephalocele, Ventriculomegaly, Hydrocephalus, Atrial ... |
ORPHA:93274 |
Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Clinodactyly, Camptodactyly, Umbilical hernia |
OMIM:618786 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... |
ORPHA:64739 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia, Pulmonary artery ste... |
OMIM:611812 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Chiari type I malformation, Agenesis ... |
OMIM:218350 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Anal atresia, Prune belly, Cervical ribs, Sprengel anomaly, Omphalocele |
OMIM:601389 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Raynaud phenomenon, Myositis, Pleural effusion, Edema, Ascites |
ORPHA:93552 |
Diets-Jongmans Syndrome |
|
Polyhydramnios, Ventricular septal defect, Wide mouth, Hip dysplasia, Inguinal hernia, Congenital... |
OMIM:618846 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect |
OMIM:300887 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Hypoplastic lef... |
ORPHA:2001 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... |
OMIM:270100 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Pedal edema, Abnormality of ... |
ORPHA:275766 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Gait ataxia, Optic atrophy, Truncal ataxia, Clumsiness, Limb ataxia, Gait disturbance, Ataxia, Ba... |
OMIM:619259 |
Luo-Schoch-Yamamoto Syndrome |
|
Small hand, Wide mouth, Thick vermilion border, Short philtrum, Oligohydramnios, Narrow mouth, Wi... |
OMIM:619460 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Selective to... |
OMIM:106260 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Ventriculomegaly, B... |
ORPHA:284169 |
Marden-Walker Syndrome |
|
Abnormal sternum morphology, Decreased muscle mass, High palate, Long philtrum, Joint contracture... |
OMIM:248700 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Long philtrum, Tricuspid valve prolapse, Hypoplasia of the musculature, ... |
ORPHA:1101 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Simplified gyral pattern, Cerebellar vermis atrophy, Ventriculomegaly |
OMIM:615760 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Perisylvian polymicrogyria, Ventriculomegaly, Atrophy/Degeneration affecting ... |
OMIM:619606 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Ventriculomegaly |
ORPHA:319199 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Long philtrum, Congestive heart failure, Inguinal hernia, Edema, Cleft palate, Umbilical hernia |
ORPHA:2505 |
Transaldolase Deficiency |
|
Telangiectasia, Hydrops fetalis, Atrial septal defect, Coarctation of aorta, Biventricular hypert... |
ORPHA:101028 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Cleft upper lip, Mandibular prognathia, Hydrocephalus, Short philtrum, Thin upper lip ... |
OMIM:239300 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Ventricular septal defect, L... |
OMIM:619189 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissencephaly, Type II... |
OMIM:615249 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Vitreous floaters, Atrioventricular block, Arrhythm... |
ORPHA:85447 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia |
OMIM:618183 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on MRI, Periventricular heter... |
ORPHA:434179 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Genu valgum, Narrow palate, High palate, Joint contracture of the hand, Mini... |
OMIM:182212 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Developmental And Epileptic Encephalopathy 70 |
|
Ventriculomegaly |
OMIM:618298 |
Spinocerebellar Ataxia 6 |
|
Truncal ataxia, Incoordination, Ataxia, Dysmetria, Slurred speech, Loss of ambulation, Frequent f... |
OMIM:183086 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Ventriculomegaly |
ORPHA:2172 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Microdontia, Hypodontia, Anodontia, Malar flattenin... |
OMIM:225060 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Long philtrum, Joint contracture of the hand, Spina bifida, Mitral valve prolapse, Camptodactyly,... |
OMIM:211960 |
Leigh Syndrome With Cardiomyopathy |
|
Retinopathy, Ventriculomegaly, Optic atrophy, Abnormal CSF lactate concentration, Dilated cardiom... |
ORPHA:70474 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Intestinal... |
ORPHA:1666 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Macroglossia, Edem... |
ORPHA:90673 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Jaundice, Prolonged prothrombin time, Hepatomegaly, Splenomegaly, Generalized edema |
OMIM:267700 |
Cln3 Disease |
|
T-wave inversion, Bradycardia, Left ventricular hypertrophy |
ORPHA:228346 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ventriculomegaly |
OMIM:619701 |
Nephronophthisis 18 |
|
Hydrocephalus, Hypertension |
OMIM:615862 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Ventriculomegaly, Sept... |
ORPHA:59315 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Ventriculomegaly |
OMIM:618974 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ventriculomegaly |
OMIM:619150 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Rhabdomyolysis, Elevated hepatic trans... |
ORPHA:26791 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia |
OMIM:254120 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Loeys-Dietz Syndrome 2 |
|
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Bifid uvula, Camptodactyly, Ascending aor... |
OMIM:610168 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ventriculomegaly |
OMIM:612951 |
13Q12.3 Microdeletion Syndrome |
|
Hip dysplasia, Oligodontia, Camptodactyly, Congenital diaphragmatic hernia, Thin upper lip vermil... |
ORPHA:412035 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
X-Linked Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Inguinal hernia, Hernia, Umbilical hernia |
ORPHA:75497 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Cerebellar atrophy, Progressive cere... |
OMIM:608768 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Polyhydramnios, Undulate ribs, Short ribs, Short long bone, Splenic cys... |
OMIM:618188 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Left ventricular hypertrophy... |
OMIM:615355 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, ... |
ORPHA:2117 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Dental malocclusion, High palate, Ventricular septal defect, Short ling... |
ORPHA:96121 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Flexion contracture, Pericardial effusion, Nonimmune hydrops fetalis, P... |
OMIM:212065 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Blepharospasm, Clumsiness, Gait disturbance, Periventricular nodular heterotopia,... |
ORPHA:352582 |
Galloway-Mowat Syndrome 5 |
|
Ventriculomegaly, Pachygyria |
OMIM:617731 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Knee flexion contracture, 11 pairs of ribs, Hip contracture, Long philtrum, Elbow flexion contrac... |
OMIM:616266 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Ventriculomegaly |
OMIM:617977 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Lobulated tongue, Cleft upper lip, High palate, Tongue nodules, Micrognathia, A... |
OMIM:277170 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Micrognathia, Cleft palate,... |
OMIM:153400 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse, Hydrocephalus |
ORPHA:2183 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Vascular dilatation, Long philtrum, Morgagni diaphragmatic hernia, Pyloric ... |
OMIM:613177 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, High palate, Mitral valve prolapse, Ascending aortic dissection, Pectus excava... |
OMIM:616166 |
Pancreatic insufficiency, combined exocrine |
|
Anasarca, Anal atresia, Congestive heart failure, Exocrine pancreatic insufficiency |
OMIM:260450 |
Ogden Syndrome |
|
Metatarsus valgus, Torsade de pointes, Thick upper lip vermilion, Everted upper lip vermilion, Mi... |
OMIM:300855 |
Lambotte Syndrome |
|
Retrognathia, Narrow mouth, Semilobar holoprosencephaly, Ventricular septal defect |
OMIM:245552 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, High palate, ... |
ORPHA:99776 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Periventricular heterotopia, Aortic aneurysm, Aortic regurgitation, Abn... |
ORPHA:98892 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cerebellar hypoplasia, Polymicrogyria, Colpocephaly |
OMIM:618731 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Anencephaly, Occipital ... |
OMIM:614175 |
Multiple Sulfatase Deficiency |
|
Spasticity, Ventriculomegaly, Hydrocephalus, Ataxia, Increased CSF protein concentration, Cerebel... |
OMIM:272200 |
Cap Myopathy |
|
Aortic root aneurysm, Increased variability in muscle fiber diameter, High palate, Lower limb mus... |
ORPHA:171881 |
Q Fever |
|
Endocarditis, Pericardial effusion, Purpura, Pericarditis, Pleural effusion, Abnormal left ventri... |
ORPHA:781 |
Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Stillbirth, Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast... |
OMIM:618598 |
Pontocerebellar Hypoplasia, Type 7 |
|
Spasticity, Ventriculomegaly, Optic atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Myoclonus... |
OMIM:614969 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Micrognathia, Deep philtrum, Orofacial cleft |
ORPHA:77300 |
Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Ventricular septal defect, Keloids, Vaginal hernia, Short philtrum, Long... |
ORPHA:96129 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistula, Congeni... |
ORPHA:1780 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Diastasis recti, Long philtrum, Inguinal hernia, Hepatocellular... |
ORPHA:3134 |
Developmental And Epileptic Encephalopathy 9 |
|
Ventriculomegaly |
OMIM:300088 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Toe syndactyly, Taurodontia, Median cleft lip, Sh... |
ORPHA:2710 |
Babesiosis |
|
Hepatic failure, Jaundice, Clinodactyly of the 5th toe, Congestive heart failure, Myocardial infa... |
ORPHA:108 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Pseudoaminopterin Syndrome |
|
Hip subluxation, Asplenia, Short 4th metacarpal, Microdontia, Clinodactyly of the 5th toe, Clubbi... |
ORPHA:221120 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, Ventricular septal defect, High palate, Hypodontia, Ankyloglossia... |
OMIM:174300 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Bradycardia, Joint contracture, Limb hypertonia |
OMIM:614498 |
Hydrolethalus |
|
Retrognathia, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Submucous cleft hard pa... |
ORPHA:2189 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Portal vein hypoplasia, Death in infancy, Po... |
OMIM:619433 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Optic atrophy, Hypertonia |
ORPHA:2518 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Clinodactyly of the 5th finger, Umbilical hernia, Oligohydramnios |
ORPHA:231144 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Clinodactyly, Coarctatio... |
OMIM:618164 |
Velocardiofacial Syndrome |
|
Pierre-Robin sequence, Ventricular septal defect, Interrupted aortic arch, Velopharyngeal insuffi... |
OMIM:192430 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Thick vermilion border |
ORPHA:250999 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Coat hanger sign of ribs, Diastasis recti, Coxa valga, Thoracic hypoplasia, Bell-... |
ORPHA:254519 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Polyhydramnios, Encephalocele, Abnormal cardiac septum morphology, Anal atresia, Intestinal malro... |
ORPHA:2166 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Ventriculomegaly |
ORPHA:521390 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Bifid uvula, Camptodactyly, Ascending aortic dissecti... |
OMIM:613795 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Zimmermann-Laband Syndrome 1 |
|
Patent ductus arteriosus, Aortic root aneurysm, Aortic arch aneurysm, High palate, Long philtrum,... |
OMIM:135500 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis, Clumsiness, Gait dist... |
OMIM:277460 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Shoulder dislocation, High palate, Cerebral hemorrhage, Bicus... |
ORPHA:536545 |
Spinocerebellar Ataxia Type 8 |
|
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Rigidity, Spastic dysarthria, Limb ataxia, At... |
ORPHA:98760 |
German Syndrome |
|
Camptodactyly of finger, High palate, Abnormal cardiac septum morphology, Micrognathia, Everted l... |
ORPHA:2077 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Atrial septal defect, Narrow mouth, Malar flattening, Cleft palate |
ORPHA:93946 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
Hajdu-Cheney Syndrome |
|
Thin vermilion border, Hepatomegaly, Cleft palate, Splenomegaly, Short toe, Ventricular septal de... |
ORPHA:955 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morp... |
ORPHA:77261 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Polyhydramnios, Hydrocephalus, Dextrocardia, Persistent left super... |
OMIM:314390 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
White-Sutton Syndrome |
|
Ventral hernia, High palate, Short philtrum, Inguinal hernia, Congenital diaphragmatic hernia, Fa... |
ORPHA:468678 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Camptodactyly, Broad hallux, Radial deviation of finger, Cleft palat... |
OMIM:305450 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Polyhydramnios, Short tibia, Polydactyly, Thoracic hypoplasia, Abnormal pelvis b... |
ORPHA:1505 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree... |
OMIM:617336 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Long philtrum, Abnormal mitral valve morpholog... |
ORPHA:1292 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Spinocerebellar Ataxia Type 13 |
|
Gait ataxia, Impaired distal vibration sensation, Optic atrophy, Titubation, Clumsiness, Torticol... |
ORPHA:98768 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Gingival recession, Intestinal perforation, Alveolar bone loss around teeth, Periodontitis, Gingi... |
OMIM:130080 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, High palate, Long philtrum, Mitral valve prolapse, Atrophic scars, Camptoda... |
OMIM:615539 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... |
ORPHA:444013 |
Zechi-Ceide Syndrome |
|
Cleft upper lip, Oligodontia, Short distal phalanx of finger, Short metatarsal, Malar flattening,... |
OMIM:612916 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Short mandibular rami, Cleft palate, Orofacial cleft |
OMIM:141400 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Abnormality of the liver, Jaundice, Elevated hepatic transaminase,... |
ORPHA:1667 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:618008 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Increased CSF lysine concentration, Increased CSF lactate, Ventriculomegaly |
OMIM:616034 |
Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the ventral pons, Hypoplasia of the brainstem, Ventriculomegaly, Abnormal cortical ... |
ORPHA:2524 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Ventriculomegaly, Cerebellar hypoplasia, Pachygyria, Cerebellar atrophy, Agenesis of corpus callosum |
ORPHA:168486 |
Monosomy 18Q |
|
Patent ductus arteriosus, Arachnodactyly, Absence of the pulmonary valve, Tapered finger, High pa... |
ORPHA:1600 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... |
ORPHA:1461 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microdontia, Hypodontia, Short philtrum, Everted lower lip vermilion, Inguinal hernia, Abnormal h... |
OMIM:601499 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Abnormal cerebellum mo... |
OMIM:618652 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Wide mouth, Atrial septal de... |
ORPHA:261236 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Ascites |
ORPHA:2905 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Optic atrophy |
ORPHA:93262 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... |
OMIM:615352 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Thoracic hypoplasia, Microdontia, Bifid uvula, Hepatosplenomegaly, Smoot... |
OMIM:266920 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:488627 |
Kohlschutter-Tonz Syndrome |
|
Ventriculomegaly, Cerebellar hypoplasia |
OMIM:226750 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:618577 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Abnormal sternum morphology, Ascending tubular aorta aneurysm, High palate,... |
OMIM:300989 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, High palate, Mitral valve prolapse, Pectus excavatum, Congenital hip di... |
OMIM:104350 |
Macs Syndrome |
|
Irregular dentition, Recurrent aphthous stomatitis, High palate, Long philtrum, Dilation of Virch... |
OMIM:613075 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Truncus arteriosus, Ventricular septal defect, Mitral s... |
ORPHA:2008 |
Johanson-Blizzard Syndrome |
|
Hepatic failure, Vascular dilatation, Colonic diverticula, Ventricular septal defect, Malabsorpti... |
OMIM:243800 |
Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Wide mouth, Micrognathia, Holoprosencephaly, Cleft palate |
ORPHA:1636 |
Neuraminidase Deficiency |
|
Hydrops fetalis, Epiphyseal stippling, Inguinal hernia, Skeletal muscle atrophy, Bone-marrow foam... |
OMIM:256550 |
Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Pleural empyema, Intussusception, Hypertension, Hypertensive crisis, Edem... |
ORPHA:544482 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
OMIM:145350 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... |
ORPHA:3384 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Ventriculomegaly, Cerebellar cyst, Hydrocephalus, Agyria, Cerebellar vermis hypoplasia, Polymicro... |
OMIM:616538 |
3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Atrioventricular canal defect, Ventriculomegaly, Ventricula... |
ORPHA:7 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Tapered finger, High palate, Wide mouth, Exaggerated cupid's bow, Bicuspid aortic valve, Macroglo... |
OMIM:614501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Hy... |
OMIM:613150 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
De Barsy Syndrome |
|
Patent ductus arteriosus, Decreased muscle mass, High palate, Ventricular septal defect, Coxa var... |
ORPHA:2962 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Polyhydramnios, Hypoperistalsis, Microcolon, Neoplasm of the heart, Intestinal malrotation, Ompha... |
ORPHA:2241 |
Oxoglutarate Dehydrogenase Deficiency |
|
Ventriculomegaly |
OMIM:203740 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Polyhydramnios, Ventriculomegaly, Hydrocephalus, Atrial septal defect, ... |
ORPHA:2655 |
Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,... |
OMIM:609452 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Stroke, Card... |
OMIM:249270 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Polyhydramnios, Aortic rupture, Redundant umbilical skin, Cleft soft pa... |
OMIM:614557 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-... |
OMIM:300166 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ventricular tachycardia, Syncope, Dilated cardiomyopathy |
OMIM:615821 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Abdominal wall defect, High palate, Ventricular septal defect, Macroglo... |
ORPHA:96191 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617563 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia |
OMIM:606164 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Baraitser-Winter Syndrome 2 |
|
Agenesis of corpus callosum, Pachygyria, Ventriculomegaly, Lissencephaly |
OMIM:614583 |
Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Polyhydramnios, Coxa valga, Pectus excavatum, Evert... |
ORPHA:800 |
Down Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Patent foramen ovale, Double outlet righ... |
OMIM:190685 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Arthrogryposis multiplex congenita, Cleft palate |
ORPHA:1484 |
Barth Syndrome |
|
Endocardial fibroelastosis, Skeletal myopathy, Dilated cardiomyopathy, Increased left ventricular... |
OMIM:302060 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Micrognathia, Gingival fibromatosis, Median cleft lip and palat... |
ORPHA:1832 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Cleft soft palate, Long philtrum, Partial duplication of the phalanx of hand... |
OMIM:616331 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Increased CSF lactate |
ORPHA:255241 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Hepatosplenomegaly, Gingival overgr... |
ORPHA:217085 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebellar hypoplasia, Simplified... |
OMIM:617669 |
Polyvalvular Heart Disease Syndrome |
|
High palate, Micrognathia, Mitral valve prolapse, Abnormal heart valve morphology, Dental crowdin... |
ORPHA:228410 |
Nephrotic Syndrome, Type 8 |
|
Edema, Generalized edema |
OMIM:615244 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
8P Inverted Duplication/Deletion Syndrome |
|
Contractures of the large joints, Long philtrum, Wide mouth, Aplasia/Hypoplasia of the gallbladde... |
ORPHA:96092 |
Castleman Disease |
|
Anasarca, Jaundice, Restrictive cardiomyopathy, Intestinal obstruction |
ORPHA:160 |
Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Myelomeningocele, Micr... |
ORPHA:1752 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Ventriculomegaly, Polymicrogyria |
OMIM:614254 |
Medulloblastoma |
|
Cerebellar ataxia associated with quadrupedal gait, Cerebellar cyst, Hydrocephalus, Ataxia, Dysme... |
ORPHA:616 |
Filippi Syndrome |
|
Ventricular septal defect, Hypodontia, Microdontia, Abnormality of dental morphology, Short philt... |
OMIM:272440 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Ventricular septal defect, Foot polydactyly, Coarctation of aorta, Tracheoesopha... |
ORPHA:268249 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Hepatosplenomegaly, Gingival overgr... |
ORPHA:217093 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent... |
ORPHA:263297 |
Acrorenal-Mandibular Syndrome |
|
Narrow palate, High palate, Toe syndactyly, Foot polydactyly, Elbow flexion contracture, Hypoplas... |
OMIM:200980 |
Smith-Kingsmore Syndrome |
|
Diastasis recti, Thoracic hypoplasia, Long philtrum, Wide mouth, Short proximal phalanx of finger... |
OMIM:616638 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... |
OMIM:613870 |
Mcleod Syndrome |
|
Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Hepatomegaly, Splenomegaly, Atrial fibrillation... |
OMIM:300842 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Prominent palatine ridges, Bilateral wrist flexion contractur... |
ORPHA:97297 |
Trisomy 13 |
|
Patent ductus arteriosus, Ventricular septal defect, Long philtrum, Atrial septal defect, Median ... |
ORPHA:3378 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Interrupted aortic arch, Hypoplastic left heart, Smooth ... |
ORPHA:1727 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Long philtrum, Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy, Inguinal hernia, Arrhy... |
OMIM:614052 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Death in infancy, Elevated hepatic transaminase, Hepatomegaly, C... |
OMIM:619064 |
Menkes Disease |
|
Abnormal carotid artery morphology, Pectus excavatum, Abnormal metaphysis morphology, Chondrocalc... |
ORPHA:565 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Secundum atrial septal defect, Camptodactyly, Metatarsus adductus, Pectu... |
OMIM:249420 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus, Ataxia, C... |
ORPHA:2318 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Ventriculomegaly |
OMIM:611555 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Jo... |
OMIM:244300 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatomegaly |
OMIM:614299 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Short philtrum, Downturned corners of mouth, Smooth philtrum |
OMIM:613192 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Elbow contracture, Pectus excavatum, Broad hallux, Short hallux, Postaxial hand p... |
OMIM:304120 |
Perlman Syndrome |
|
Polyhydramnios, Everted upper lip vermilion, Volvulus, Interrupted aortic arch, Congenital diaphr... |
OMIM:267000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Flexion contracture, High palate, Ventricular septal defect, Corneal scarring... |
OMIM:614653 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Flexion contract... |
ORPHA:505248 |
Kleefstra Syndrome Due To A Point Mutation |
|
Tapered finger, Natal tooth, Thick lower lip vermilion, Anal atresia, Inguinal hernia, Abnormal h... |
ORPHA:261652 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspid aortic valve, Hypertension, A... |
OMIM:613355 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Cirrhosis, Ventricular septal defect, Optic atrophy, Death in infancy, ... |
OMIM:614576 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Macrodontia of permanent maxillary central incisor, Widely spaced teet... |
OMIM:618067 |
Atransferrinemia |
|
Abnormality of the liver, Congestive heart failure |
OMIM:209300 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Pulmonary insufficiency, Thoracic hypoplasia, Tibial bow... |
OMIM:166210 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia, Cervical ribs |
ORPHA:66630 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Abnormal cardiac septum morphology, Epiphyseal stippling, 2-5 finger syndact... |
OMIM:308050 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Congenital diaphragmatic hernia, Pulmonary venous oc... |
ORPHA:2260 |
Krabbe Disease |
|
Increased CSF protein concentration, Optic atrophy, Progressive spasticity, Hydrocephalus, Decrea... |
OMIM:245200 |
Oculocerebrocutaneous Syndrome |
|
Agenesis of corpus callosum, Gray matter heterotopia, Dandy-Walker malformation, Orbital encephal... |
OMIM:164180 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, Camptodactyly, Broad hallux, Smooth philtrum, Cleft palate, Ventricular septal de... |
OMIM:301044 |
17P13.3 Microduplication Syndrome |
|
Ventriculomegaly |
ORPHA:217385 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Molar tooth sign on MRI, Abnormal cerebellum morphology, Polymicrogyria |
OMIM:617757 |
Distal Monosomy 3P |
|
Atrioventricular canal defect, High palate, Long philtrum, Clinodactyly of the 5th finger, Inguin... |
ORPHA:1620 |
Lateral Meningocele Syndrome |
|
Meningocele, High palate, Ventricular septal defect, Pectus excavatum, Inguinal hernia, Smooth ph... |
ORPHA:2789 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
Kabuki Syndrome |
|
Lip pit, Short 5th finger, Small hand, Abnormal cardiac septum morphology, Widely spaced teeth, H... |
ORPHA:2322 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short middle phalanx of the 5th finger, No p... |
ORPHA:46627 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Pleural empyema, Liver abscess, Elevated hepatic transaminase, C... |
ORPHA:67 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
Fabry Disease |
|
Transient ischemic attack, Abnormal autonomic nervous system physiology, Left ventricular hypertr... |
OMIM:301500 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Dislocated radial head, Spina ... |
OMIM:135900 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Optic atrophy, Hydrocephalus, Ataxia, Agen... |
OMIM:614424 |
Isolated Cleft Lip |
|
Non-midline cleft lip, Polyhydramnios, Supernumerary maxillary incisor, Bilateral cleft lip, Hypo... |
ORPHA:199302 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Pectus excavatum, Dislocated radial head, Radial deviation of finger, Absent uvula,... |
OMIM:268310 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:1496 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Difficulty in tongue movements, Left ventricular outflow tract obstruction, Elevated circulating ... |
ORPHA:308552 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Cleft palate, Facial palsy, Doubl... |
OMIM:214800 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Cleft palate, High palate, Median cleft lip |
OMIM:300484 |
Lissencephaly, X-Linked, 2 |
|
Agenesis of corpus callosum, Pachygyria, Ventriculomegaly, Lissencephaly |
OMIM:300215 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
Glutathionuria |
|
Gray matter heterotopia, Dysdiadochokinesis, Tremor, Action tremor, Agenesis of corpus callosum |
OMIM:231950 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Ventriculomegaly |
OMIM:617290 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip, Absent radius |
OMIM:179400 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Flexion contracture, High palate, Long philtrum, Micrognathia, Everted lower lip vermilion, Nemal... |
OMIM:616549 |
Seckel Syndrome 10 |
|
Abdominal aortic aneurysm, Ventricular hypertrophy, Elevated circulating alanine aminotransferase... |
OMIM:617253 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, Polyhydramnios, 2-3 toe syndactyly, 11 pairs of ribs, Aortic roo... |
OMIM:620025 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Gingival overgrowth, Orofacial cleft, ... |
ORPHA:97360 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Narrow chest, Clef... |
OMIM:619124 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Enlarged thorax, Wide pubic symphysis, Wide distal femoral metaphysis,... |
OMIM:614856 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:615286 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pul... |
ORPHA:2712 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Wide mouth, Thick lower lip vermilion, Submucou... |
OMIM:619103 |
Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Microdontia, Synostosis of carpal bones, Biliary tract abnormality, ... |
ORPHA:3191 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defect, Arr... |
OMIM:236680 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Cardiac arrest, Abnormal thorax morphology, Bradycardia, Tachycardia |
ORPHA:70587 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Narrow palate, Atrial septal defect, Con... |
OMIM:618223 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ventriculomegaly |
OMIM:616116 |
Cardiac Valvular Dysplasia 1 |
|
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... |
OMIM:212093 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Okamoto Syndrome |
|
Anal stenosis, Polydactyly, Splenomegaly, Ventricular septal defect, Abnormal mitral valve morpho... |
ORPHA:2729 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Hydrops fetalis, Edema, Skeletal muscle atrophy, Ascites, Portal hypertension, Ar... |
OMIM:232500 |
Opitz Gbbb Syndrome |
|
Cleft upper lip, High palate, Ventricular septal defect, Anal atresia, Unilateral cleft lip, Ingu... |
OMIM:300000 |
Permanent Congenital Hypothyroidism |
|
Jaundice, Macroglossia, Umbilical hernia |
ORPHA:226292 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:619922 |
Seckel Syndrome 9 |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia, Con... |
OMIM:616777 |
Mitral Valve Prolapse 1 |
|
High palate, Mitral valve prolapse, Pectus excavatum, Mitral regurgitation, High, narrow palate |
OMIM:157700 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... |
ORPHA:99827 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Scarring, Pectus excavatum, Cleft palate, Arthrogryposis multiplex congenita, Tricuspid regurgita... |
OMIM:601776 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Recurrent shoulder dislocation, Hallux valgus, Pectus excavatum, Tricuspid regurgitation, Aortic ... |
ORPHA:230851 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syndactyly, Hip dislo... |
ORPHA:84 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Bifid uvula, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly... |
OMIM:614921 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Third degree atrioventricular block, Metaphyseal... |
OMIM:619636 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly |
OMIM:617493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Spasticity, Ven... |
OMIM:615287 |
Bladder Exstrophy |
|
Bladder exstrophy, Inguinal hernia, Omphalocele, Umbilical hernia |
ORPHA:93930 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Spasticity, Cerebellar cortical atrophy, Shuffling gait, Dysdiadochokinesis, Akinesi... |
ORPHA:247234 |
Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Lobulated tongue, Vascular dilatation, Bifid tongue, Cleft upper lip, High pal... |
OMIM:311200 |
Cog5-Cdg |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation |
ORPHA:263487 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Ventricular septal defect, Short ribs, Micrognathia, Short femur, Unilateral... |
OMIM:616897 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:615279 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Gait ataxia, Decreased motor nerve conduction velocity, Babinski sign, Decreased sensory nerve co... |
OMIM:616192 |
Superficial Siderosis |
|
Babinski sign, Frequent falls, Unsteady gait, Enlarged sylvian cistern, Abnormal cerebrospinal fl... |
ORPHA:247245 |
Carpenter Syndrome 2 |
|
Camptodactyly, Pectus excavatum, Tricuspid regurgitation, Narrow palate, Atrial septal defect, De... |
OMIM:614976 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation |
OMIM:619847 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal defect, Hypoplastic right... |
OMIM:618142 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Hip dislocation, Pectus excavatum, Adducted thumb, Inguinal hernia, Congenital hip dislocation, N... |
OMIM:219150 |
Viss Syndrome |
|
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft pal... |
OMIM:619472 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Delayed eruption of teeth, Toe syndactyly, Spina b... |
OMIM:305600 |
Tetrasomy 9P |
|
Abnormal cardiac septum morphology, Bifid uvula, Myositis, Pericarditis, Cleft palate, Amelogenes... |
ORPHA:3310 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Marfan Syndrome |
|
Aortic tortuosity, Meningocele, Ascending tubular aorta aneurysm, Pulmonary artery dilatation, As... |
ORPHA:558 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar hypoplasia, Abnormal pons morphology, Ventriculomegaly, Cerebellar vermis hypoplasia |
ORPHA:370968 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Deep philtrum, Bilateral cleft lip, Bifid uvula, Short philtrum, Thin uppe... |
OMIM:618622 |
Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Hypo... |
OMIM:277590 |
Hereditary Hemorrhagic Telangiectasia |
|
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary... |
ORPHA:774 |
Beckwith-Wiedemann Syndrome |
|
Polyhydramnios, Diastasis recti, Large intestinal polyposis, Wide mouth, Exocrine pancreatic insu... |
ORPHA:116 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse, Atrophic scars, Bruising susceptibility, Pectus excavatum, Aortic regurgit... |
OMIM:225320 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Pancreatic cysts, Biliary cirrhosis, Atrial septal defect, Oligohydramn... |
OMIM:267010 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, High palat... |
ORPHA:3309 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Congestive h... |
ORPHA:73224 |
Distal Trisomy 5Q |
|
Absent thumb, Hernia, Ventricular septal defect, Long philtrum, Aplasia/Hypoplasia of the gallbla... |
ORPHA:96097 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Ventriculomegaly, Lateral ventricle dilatation, Dysgenesis of the cerebe... |
OMIM:619479 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Microphthalmia With Limb Anomalies |
|
Retrognathia, Cleft upper lip, High palate, Foot oligodactyly, Deep philtrum, Hand oligodactyly, ... |
OMIM:206920 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Micrognathia, Bicuspid aortic valve, Hydrocephalus,... |
ORPHA:2306 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Abnormal cerebellar cortex morphology, Ragged-red... |
ORPHA:70595 |
Mucopolysaccharidosis Type 2 |
|
Flexion contracture of digit, Contractures of the large joints, Splenomegaly, Abnormal aortic mor... |
ORPHA:580 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Periportal fibrosis, Enlarged kidney, Hypertrophic cardiomyopathy, Situ... |
OMIM:615382 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Median cleft lip, Cleft palate, Holoprosencephaly, Abnormal cerebral vascular morphology |
ORPHA:2165 |
Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Hypodontia, Cleft upper lip, Neural tube defect |
OMIM:119580 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Skeletal myopathy, Coronary artery stenosis, Coronary artery atherosclerosis, Abnormality of the ... |
ORPHA:565612 |
Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Left ventricular h... |
ORPHA:335 |
Illum Syndrome |
|
Pierre-Robin sequence, Calcinosis, Whistling appearance, Bradycardia, Arthrogryposis multiplex co... |
OMIM:208155 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abno... |
ORPHA:90674 |
Nephrotic Syndrome, Type 22 |
|
Generalized edema |
OMIM:619155 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Flexion contracture, Cleft palate, Arthrogryposis multiple... |
OMIM:263650 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Pierre-Robin sequence, Small hand, Ventricular septal defect, Aortic valve pro... |
OMIM:619980 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Malformation of the hepatic duct... |
OMIM:615415 |
Esophageal Atresia |
|
Polyhydramnios, Ventricular septal defect, Pyloric stenosis, Clinodactyly, Duodenal atresia, Coar... |
ORPHA:1199 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Chronic axonal neuropathy, Impaired distal vibration sensation, Abnormal pyr... |
OMIM:606002 |
Arachnoid Cyst |
|
Encephalocele, Chiari malformation, Abnormal cerebellum morphology, Cranial nerve compression, Pa... |
ORPHA:2356 |
Bohring-Opitz Syndrome |
|
Retrognathia, Short toe, Cleft upper lip, Flexion contracture, Mesomelic/rhizomelic limb shorteni... |
OMIM:605039 |
Split hand/foot malformation 1 (SHFM1) |
|
Cleft palate, Median cleft lip |
DECIPHER:46 |
Gapo Syndrome |
|
Long philtrum, Delayed eruption of teeth, Abnormal cerebral vascular morphology, Atherosclerosis,... |
ORPHA:2067 |
Lymphangioleiomyomatosis |
|
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites, P... |
ORPHA:538 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Hypothalamic atrophy, Abnormal substantia nigra morphology, Lateral vent... |
ORPHA:2822 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Abnormal pyramidal sign, Optic atrophy, Akinesia, Truncal ataxia, Choreoathetosis, Optic neuropat... |
OMIM:618249 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Chronic active hepatitis, Atherosclerosis, Elevated hepatic transaminase... |
OMIM:203800 |
X-Linked Intellectual Disability, Nascimento Type |
|
Pulmonary arterial hypertension, Patent foramen ovale, Double outlet right ventricle, Patent duct... |
ORPHA:163956 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Long philtrum, Short philtrum, Coarctation of aorta, ... |
OMIM:618929 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:137215 |
Nager Syndrome |
|
Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Hypoplasia of the radius, Mic... |
ORPHA:245 |
Loeys-Dietz Syndrome 5 |
|
Cleft soft palate, Reduced subcutaneous adipose tissue, Bifid uvula, Ascending aortic dissection,... |
OMIM:615582 |
Caudal Duplication |
|
Omphalocele |
ORPHA:1756 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Micrognathia, Velophary... |
OMIM:613680 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Diastasis recti, High palate, Short philtrum, Everted lower lip vermilion, Thin upper lip vermili... |
OMIM:616579 |
Meckel Syndrome, Type 5 |
|
Cleft palate, Cleft upper lip, Anencephaly, Occipital encephalocele |
OMIM:611561 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Increased CSF lactate, Ventriculomegaly |
OMIM:619059 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Lateral ventricle dilatation |
OMIM:619745 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Dpagt1-Cdg |
|
Flexion contracture, Clinodactyly, Camptodactyly, Intracranial hemorrhage, Elevated hepatic trans... |
ORPHA:86309 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hepatic failure, Ventriculomegaly, Death in infancy, Elevated hepatic transaminase, Left ventricu... |
OMIM:619355 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Crouzon Syndrome |
|
Hydrocephalus, Chiari malformation, Optic atrophy, Cerebellar hypoplasia |
ORPHA:207 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Intracranial hemorr... |
ORPHA:363618 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, Hepatomegaly... |
ORPHA:99125 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Mitral valve prolapse, Pectus excavatum, Hepatic steatosis, Inguinal hernia, Myocard... |
OMIM:236200 |
Joint Laxity, Short Stature, And Myopia |
|
Inguinal hernia, Pectus carinatum, Umbilical hernia |
OMIM:617662 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Hypoplasia of the radius, Micrognathia, Hypoplasi... |
ORPHA:246 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Calcification of the aorta, Hydrocephalus, Hepatomegaly, Cardiomeg... |
OMIM:231005 |
Vici Syndrome |
|
Gray matter heterotopia, Optic atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Agenesis o... |
ORPHA:1493 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Knee flexion contracture, Abnormality of neuronal migration, ... |
OMIM:608836 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Hypertonia |
ORPHA:2216 |
Williams Syndrome |
|
Sudden cardiac death, Aortic arch aneurysm, Abnormal cardiac septum morphology, Abnormal carotid ... |
ORPHA:904 |
Iniencephaly |
|
Polyhydramnios, Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Gastroschisis, ... |
ORPHA:63259 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Pedal edema, Hypertension, Pleural effusion, Edema, Palpebral edema, Anasarca... |
ORPHA:567546 |
3P25.3 Microdeletion Syndrome |
|
Knee flexion contracture, Patent ductus arteriosus, Mandibular prognathia, Ventricular septal def... |
ORPHA:435638 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Polyhydramnios, Pericardial effusion, Medial calcification of large arte... |
ORPHA:51608 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly,... |
OMIM:200995 |
Methimazole Embryofetopathy |
|
Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Cardioacrofacial Dysplasia 2 |
|
Conical tooth, Atrioventricular canal defect, Mandibular prognathia, Deep philtrum, Left superior... |
OMIM:619143 |
Giant Cell Arteritis |
|
Sudden cardiac death, Abdominal aortic aneurysm, Hepatic failure, Cerebral ischemia, Glossitis, E... |
ORPHA:397 |
Marfan Syndrome |
|
Flexion contracture, Ascending tubular aorta aneurysm, Reduced subcutaneous adipose tissue, Incis... |
OMIM:154700 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Polyhydramnios, Truncus arteriosus, Abnormal thorax morphology, Retinal arteriolar t... |
ORPHA:567 |
Leukodystrophy, Hypomyelinating, 24 |
|
Ventriculomegaly |
OMIM:619851 |
Dural Sinus Malformation |
|
Somatic sensory dysfunction, Abnormal cerebellum morphology, Parkinsonism, Hemiparesis, Poor coor... |
ORPHA:97339 |
Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Delayed eruption of teeth, Pectus excavatum, Dislocated... |
ORPHA:666 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele |
OMIM:248450 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Ventriculomegaly |
ORPHA:1495 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Elevated hepatic transaminase, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:615895 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Ventriculomegaly |
OMIM:614066 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Umbilical hernia, Pectus excavatum |
OMIM:618272 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:217090 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Ventricular septal defect, Delayed eruption of teeth, Widel... |
ORPHA:1071 |
Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Pseudoepiphyses, Ventricular septal defect, Long philtrum, Wide mouth, Carp... |
OMIM:157800 |
Down Syndrome |
|
Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Clinodactyly of the... |
ORPHA:870 |
Classical Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Pulp calcification, Incisional hernia, Hip dislocation, Dislocated radial h... |
ORPHA:287 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Cleft palate, Short foot, High, narrow palate |
OMIM:607597 |
Kawasaki Disease |
|
Ascending tubular aorta aneurysm, Hepatitis, Jaundice, Double outlet right ventricle with subpulm... |
ORPHA:2331 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Spinocerebellar Ataxia 27A |
|
Gait ataxia, Postural tremor, Limb ataxia, Cerebellar atrophy, Impaired vibratory sensation |
OMIM:193003 |
Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Small hand, Micrognathia, Oligodontia, Supernumerary tooth, Spina bifida oc... |
ORPHA:1787 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Encephalocele, Arteriovenous malformation, Hydrocephalus, Abnorm... |
ORPHA:974 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Cleft upper lip, Mandibular prognathia, Spina bifida, Tented upper lip vermilion, Cl... |
ORPHA:894 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Ventriculomegaly |
ORPHA:85277 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:618367 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cerebellar dysplasia, Ventriculomegaly, Optic atrophy, Cerebellar hypoplasia, Agyria, Cerebellar ... |
OMIM:236670 |
C Syndrome |
|
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Abnormality of... |
ORPHA:1308 |
Enlarged Parietal Foramina |
|
Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation, Cleft lip, Short clavic... |
ORPHA:60015 |
Ataxia-Oculomotor Apraxia 4 |
|
Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy, Impaired vi... |
OMIM:616267 |
Ellis-Van Creveld Syndrome |
|
Cleft upper lip, Natal tooth, Short ribs, Delayed eruption of teeth, Hypodontia, Abnormality of t... |
OMIM:225500 |
Bilateral Perisylvian Polymicrogyria |
|
Spasticity, Cerebellar dysplasia, Abnormality of neuronal migration, Perisylvian predominant thic... |
ORPHA:98889 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Mandibular prognathia, Spina bifida occulta, Malar flattening, Cleft palate |
OMIM:268850 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Polyhydramnios, Peritoneal abscess, Ventricular septal defect, Hepatitis, Intestinal malrotation,... |
ORPHA:436252 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland, Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele |
OMIM:614195 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Mucopolysaccharidosis Type 3 |
|
Genu valgum, Flexion contracture, Avascular necrosis of the capital femoral epiphysis, Reduced le... |
ORPHA:581 |
Pierpont Syndrome |
|
Chiari malformation, Ventriculomegaly, Abnormal cortical gyration |
ORPHA:487825 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Non-midline cleft lip, Craniofacial hyperostosis, Cleft palate |
ORPHA:2725 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
Williams-Beuren Region Duplication Syndrome |
|
Ventriculomegaly, Hydrocephalus, Gait disturbance, Cerebellar vermis hypoplasia, Speech apraxia |
OMIM:609757 |
Sepsis In Premature Infants |
|
Hypotension, Splenomegaly, Enterocolitis, Petechiae, Jaundice, Purpura, Abnormal bleeding, Edema,... |
ORPHA:90051 |
Dent Disease 2 |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... |
OMIM:300555 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Hepatic failure, High palate, Ventricular septal defect, Lymphedema, Thyroid lymp... |
OMIM:235255 |
Friedreich Ataxia |
|
Optic atrophy, Abnormal EKG, Decreased amplitude of sensory action potentials, Congestive heart f... |
OMIM:229300 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Increased CSF glycine concentration, Increased CSF lactate, Ventriculomegaly, Polymicrogyria |
OMIM:615330 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:109120 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Aicardi-Goutieres Syndrome 7 |
|
Limb hypertonia, Pericardial effusion, Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy... |
OMIM:615846 |
Pontocerebellar Hypoplasia, Type 16 |
|
Hypoplasia of the pons, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:619527 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventriculomegaly, Increased CSF lactate... |
OMIM:619051 |
Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block, Limb joint contracture |
OMIM:619814 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Camptodactyly, Short philtrum, Atrial septal... |
OMIM:300963 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Delayed eruption of teeth, Short lingual frenulum, Pectus excavatum, Dislocated rad... |
OMIM:180700 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... |
OMIM:137440 |
Joubert Syndrome With Hepatic Defect |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Oculomotor apraxia, Hydr... |
ORPHA:1454 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Bifid distal phalanx of the thumb, Diastasis recti, Long philtrum, Cutaneous finger syndactyly, H... |
OMIM:618419 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Micrognathia, Median cleft lip, Cleft palate, Abnormality of the dentition |
ORPHA:1794 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Hip subluxation, Flexion contracture, Tapered finger, Ischemic strok... |
OMIM:619503 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Short toe, Blepharochalasis, Gingival hyperkeratosis, Hypodontia, Atroph... |
OMIM:225410 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Abnormal palate morphology, Tetralogy of Fallot |
ORPHA:1381 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation |
OMIM:616589 |
Trisomy 20P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Hernia, Finger syndactyly, Ectopic anus, Spin... |
ORPHA:261318 |
16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Tapered finger, Hallux valgus, Short 5th finger, High, narrow palate, Long ph... |
ORPHA:485405 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Retrognathia, Absent thumb, Cleft upper lip, High palate, Ventricular septal de... |
OMIM:105650 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation |
ORPHA:293725 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad long bone diaphyses, Genu valgum, Tapered finger, Hip dysplasia, Hip dislocation, Hepatospl... |
OMIM:301066 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Abnormality of the pancreas, Narrow palate, Hypertension, Anteriorly placed anus, Narrow mouth, T... |
ORPHA:1555 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, Pierre-Robin sequence, Ventricular septal defect, Micrognathia, Dental ... |
OMIM:617201 |
Contractural Arachnodactyly, Congenital |
|
Wrist flexion contracture, Elbow flexion contracture, Camptodactyly, Metatarsus adductus, Calf mu... |
OMIM:121050 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Ventriculomegaly |
ORPHA:261295 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... |
ORPHA:95459 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Bell-shaped thorax, Short thorax, Myelomeningocele, Ectop... |
OMIM:613686 |
Keratoconus Posticus Circumscriptus |
|
Cleft palate, Cleft upper lip |
OMIM:244600 |
Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, High palate, Ventricular septal defect, Long philtrum, Wide mouth, Thick lo... |
OMIM:618950 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Ventricular septal defect, Ventriculomegaly, Coronary artery fistula, Sp... |
OMIM:620024 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Ventriculomegaly |
ORPHA:2643 |
Adams-Oliver Syndrome 1 |
|
Cleft upper lip, Encephalocele, Ventricular septal defect, Bicuspid aortic valve, Atrial septal d... |
OMIM:100300 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Polyhydramnios, Flexion contracture, Long philtrum, Cardiac arrest, Elbow flexi... |
OMIM:618947 |
Familial Visceral Myopathy |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Aganglionic megaco... |
ORPHA:2604 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:615433 |
Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, High palate, Clinodactyly of the 5th finger, Broad hallux, Inguinal hernia, Thin ... |
OMIM:617062 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Ventriculomegaly, Bicuspid aortic valve, Left ventricular hypertrophy,... |
OMIM:618619 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Long philtrum, Short philtrum, Atrial septal defect, Smooth philtrum, ... |
ORPHA:261190 |
Propionic Acidemia |
|
Arrhythmia, Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
Gm1-Gangliosidosis, Type Iii |
|
Ventriculomegaly |
OMIM:230650 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Pierre-Robin sequence, Cleft soft palate, Secundum atrial septal defect, Clinodactyly of the 5th ... |
OMIM:620183 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:619955 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Asplenia... |
ORPHA:210122 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Malabsorption, Purpura,... |
ORPHA:183 |
Pai Syndrome |
|
Encephalocele, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate |
ORPHA:1993 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:611209 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect |
ORPHA:261250 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Carious teeth, Right aortic ar... |
OMIM:147770 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Ventriculomegaly, Simplified gyral pattern, Pachygyria, Cerebellar atrophy, Increased CSF lactate... |
OMIM:618397 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Stroke, Facial palsy |
OMIM:182410 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion,... |
ORPHA:3260 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Ele... |
ORPHA:171 |
Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
Agnathia-Otocephaly Complex |
|
Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Situs inversu... |
OMIM:202650 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uvula, Cleft palate, Omphalocele, Unilateral cleft lip |
ORPHA:2736 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Cerebellar vermis atrophy, Abnormality of neuronal migration, Cerebral palsy, Ataxia, Lower limb ... |
ORPHA:163681 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, High palate, Long philtrum... |
OMIM:220500 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Cleft upper lip, Cleft palate |
OMIM:601076 |
Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Fatty replacement of skeletal muscle, Chronic pancreatitis, Shoulder girdle muscl... |
ORPHA:98908 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
OMIM:300148 |
Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Atte... |
OMIM:619149 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... |
ORPHA:37553 |
Loeys-Dietz Syndrome 4 |
|
Aortic tortuosity, Protrusio acetabuli, Aortic root aneurysm, Ascending tubular aorta aneurysm, H... |
OMIM:614816 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Ventricular septal defect |
ORPHA:2256 |
Johanson-Blizzard Syndrome |
|
Abnormality of the pancreas, Abnormal cardiac septum morphology, Delayed eruption of teeth, Malab... |
ORPHA:2315 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Umbilical hernia |
OMIM:274400 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Pedal edema, Malabsorption, Purpura, Congestive heart failure, Epistaxis, Ple... |
ORPHA:33226 |
Tyshchenko Syndrome |
|
Polyhydramnios, Narrow palate, Ventricular septal defect, High palate, Atrial septal defect, Pect... |
OMIM:615102 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Oligodontia, Abnormal metacarpal morphology, Short distal phalanx of fi... |
ORPHA:2095 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Ventricular septal defect, Coxa valga, Perimembranous ventricular septal defect, ... |
OMIM:301040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebellar hypoplasia, Left ventricular systolic dysfunction, Ventriculomegaly, Cerebellar vermis... |
OMIM:613156 |
Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Optic atrophy, Increased CSF lactate, Retinal degeneration, Hypertrophic card... |
ORPHA:391428 |
Distal Monosomy 10P |
|
Micrognathia, Non-midline cleft lip, Cleft palate |
ORPHA:1580 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Coarctation of aorta, Prolonged prothrombin time, Ventricular septal defect |
OMIM:616559 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Wide mouth, Macroglossia, Everted lower lip vermilion, Open mouth, Transpos... |
OMIM:616789 |
Pontocerebellar Hypoplasia, Type 2B |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, C... |
OMIM:612389 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... |
OMIM:253010 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Ventriculomegaly |
ORPHA:228384 |
Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, M... |
ORPHA:1830 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Flexion contracture, Ascending tubular aorta aneurysm, Ventricular septal defect, High palate, De... |
OMIM:309520 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Death in i... |
OMIM:201475 |
Hsd10 Disease |
|
Ventriculomegaly |
ORPHA:391417 |
Fabry Disease |
|
Achalasia, Angina pectoris, Hypertrophic cardiomyopathy, Lymphedema, Transient ischemic attack, L... |
ORPHA:324 |
Dilated Cardiomyopathy With Ataxia |
|
Diaphragmatic eventration, Generalized amyotrophy, Dilated cardiomyopathy, Muscular ventricular s... |
ORPHA:66634 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Jaundice, Hypertension, Elevated gamma-glutamyltransferase level, Elevated circulating alkaline p... |
OMIM:613095 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Thoracic hypoplasia, Cleft soft palate, Elbow flexion contracture, Posterior rib ... |
OMIM:117650 |
Mohr Syndrome |
|
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Hydrocephalus, Median ... |
OMIM:252100 |
Primary Pulmonary Hypoplasia |
|
Patellar hypoplasia, Secundum atrial septal defect, Dextrocardia, Cleft palate, Abnormal pulmonar... |
ORPHA:2257 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Volvulus, Anal atresia, Atrial septal defect... |
ORPHA:2970 |
Stankiewicz-Isidor Syndrome |
|
Retrognathia, Patent ductus arteriosus, Absent thumb, Truncus arteriosus, Ventricular septal defe... |
OMIM:617516 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Cleft palate, Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Ventriculomegaly |
ORPHA:2158 |
Werner Syndrome |
|
Small hand, Abnormal cerebral vascular morphology, Atherosclerosis, Abnormal thorax morphology, H... |
ORPHA:902 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Retinal hemorrhage, Pulmonary arterial hypertension, Finger syndactyly, ... |
ORPHA:464 |
Hennekam Syndrome |
|
Camptodactyly of finger, Hydrops fetalis, Lymphedema, Pericardial effusion, Arteriovenous malform... |
ORPHA:2136 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria |
ORPHA:2065 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Ventriculomegaly, Cerebellar vermis hypoplasia, Partial agenesis of the ... |
OMIM:619775 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Calf muscle ... |
ORPHA:268 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Ventriculomegaly |
ORPHA:457260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Ventriculomegaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Hydrocephalus, ... |
ORPHA:228308 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Partial agenesis of the corpus callosum, Ventriculomegaly, Cerebellar... |
OMIM:619074 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, P... |
ORPHA:157 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Agenesis of corpus callosum, Ventriculomegaly, Pachygyria |
ORPHA:452 |
Distal Monosomy 10Q |
|
Spina bifida occulta, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebe... |
ORPHA:96148 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Abnormal bleeding, Atrial septal defect, Oligohy... |
OMIM:208085 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Bile ... |
OMIM:203700 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Holoprosencephaly, Hydrocephalus, Ventricular septal defect |
ORPHA:77298 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ataxia, Hypertonia |
ORPHA:2720 |
Monosomy 9Q22.3 |
|
Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of teeth, Pectus... |
ORPHA:77301 |
Microscopic Polyangiitis |
|
Abnormal retinal vascular morphology, Congestive heart failure, Pericarditis, Epistaxis, Gastroin... |
ORPHA:727 |
Posterior Meningocele |
|
Meningocele, Chiari malformation, Neural tube defect, Occipital meningocele, Upper limb spasticit... |
ORPHA:268810 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Pancreatic hyperplasia, Macroglossia, Hepatoblastoma, Hepatomegaly, Cardiomegaly... |
OMIM:130650 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Retrognathia, Camptodactyly of finger, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou... |
ORPHA:2521 |
Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Cleft upper lip, Narrow palate, Ventricular septa... |
OMIM:610443 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Abnormal zygomatic bone morphology, Malar flattening, Short palm, Unilater... |
ORPHA:2511 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Jaundice, Elevated hepatic transaminase, Hypertension, Congestive heart failur... |
ORPHA:525731 |
Pontocerebellar Hypoplasia, Type 9 |
|
Hypoplasia of the pons, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:615809 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hypoplasia of the maxilla,... |
OMIM:614261 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus |
OMIM:613776 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
OMIM:105210 |
Hamamy Syndrome |
|
Enamel hypoplasia, Dental malocclusion, High palate, Long philtrum, Wide mouth, Micrognathia, Hyp... |
OMIM:611174 |
Hypoglossia With Situs Inversus |
|
High palate, Hypodontia, Micrognathia, Situs inversus totalis, Narrow mouth, Microglossia |
OMIM:612776 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Ventriculomegaly |
OMIM:617268 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... |
ORPHA:94080 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short metacarpal, Delayed eruption of teeth, Broad clavicles, Gingival overgrowth, Abnormal thora... |
ORPHA:508542 |
Treacher-Collins Syndrome |
|
Retrognathia, Patent ductus arteriosus, Cleft upper lip, High palate, Encephalocele, Wide mouth, ... |
ORPHA:861 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Coronary arter... |
ORPHA:439232 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Micrognathia, Abnormality of dental morphology, Hypodontia, Anodontia, Hypoplasi... |
ORPHA:3253 |
Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Diastasis recti, Long philtrum, Barrel-shaped chest, Inguinal h... |
OMIM:312830 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Long philtrum, Hepatitis, Splenic cyst... |
OMIM:610199 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Spasticity, Cerebellar hypoplasia, Simplified gyral pattern, Macrogyria... |
OMIM:300749 |
Phaver Syndrome |
|
Camptodactyly of finger, Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypop... |
ORPHA:2876 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Fragmented epiphyses, Disloca... |
ORPHA:166016 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Cerebellar hypoplasia, Agenesis of corpus... |
OMIM:613001 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Ventriculomegaly, Optic atrophy, Cerebral palsy, Hydrocephalus, Atax... |
OMIM:619833 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Cleft upper lip |
OMIM:216100 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Atrioventricular canal defect, Bifid tongue, Micrognathia, Taurodontia, Abnormal ora... |
ORPHA:2751 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Ventriculomegaly, Ataxia, Abnormal heart morphology, Dysplastic corpus c... |
ORPHA:314679 |
Myhre Syndrome |
|
Abnormal cardiac septum morphology, Large iliac wing, Gingival cleft, Abnormal lip morphology, Bi... |
ORPHA:2588 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Inguinal hernia, Umbilical hernia |
ORPHA:2196 |
Scorpion Envenomation |
|
Rhabdomyolysis, Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle br... |
ORPHA:466677 |
Dominant Beta-Thalassemia |
|
Genu valgum, Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Hepatocellular carcinoma, Dila... |
ORPHA:231226 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated h... |
OMIM:608594 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Elongated superior cerebellar peduncle, Dysgenes... |
OMIM:608091 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Ventriculomegaly, Hydrocephalus, Atrial septal defect, ... |
ORPHA:1860 |
Temple Syndrome |
|
Hydrocephalus, Decreased response to growth hormone stimulation test |
ORPHA:254516 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Flexion contracture, Malabsorption, Congestive heart failure, Hy... |
ORPHA:220393 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Ventriculomegaly, Atri... |
OMIM:618870 |
Myhre Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Camptodactyly, Hyperte... |
OMIM:139210 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Thick lower lip vermilion, Everted lower lip vermilion, Telangie... |
ORPHA:85321 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, G... |
OMIM:102500 |
Chromosome 19P13.13 Deletion Syndrome |
|
Chiari type I malformation, Ventriculomegaly |
OMIM:613638 |
Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... |
OMIM:609583 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Vici Syndrome |
|
Cleft upper lip, High palate, Everted upper lip vermilion, Long philtrum, Micrognathia, Thick ver... |
OMIM:242840 |
Rubinstein-Taybi Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Hyperactivity, Flexion contracture, Ventricular s... |
OMIM:180849 |
Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Multiple lipomas, Finger syndactyly, Cellulitis, Lymphedema, Hand polydactyly... |
ORPHA:2346 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Everted lower lip vermilion, Tooth agenesis, Shagreen patch,... |
ORPHA:2963 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Cerebellar cyst, Ventriculomegaly, Pachygyria |
OMIM:606612 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Ventriculomegaly |
OMIM:615637 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated h... |
OMIM:269700 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Abnormal aortic morphology, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Cleft palate, Hepatic fibro... |
OMIM:614091 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Dandy-Wa... |
ORPHA:459061 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly, Death in infancy, Optic di... |
OMIM:300514 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Decreased methionine synthase activity, High palate, Glossitis, Atrial ... |
OMIM:277380 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... |
OMIM:615474 |
Desmosterolosis |
|
Abnormality of neuronal migration, Ventriculomegaly, Abnormal cortical gyration, Macrogyria, Hydr... |
ORPHA:35107 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... |
OMIM:607459 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Ventriculomegaly |
ORPHA:137902 |
Amish Lethal Microcephaly |
|
Ventriculomegaly, Spina bifida, Lissencephaly, Agenesis of corpus callosum, Cerebellar vermis hyp... |
ORPHA:99742 |
Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polyhydramnios, Polydactyly, Biliary cirrhosis, Microdontia, Elevated hepatic tr... |
OMIM:613610 |
Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Ventricular septal defect, Joint contracture of the hand, Camptodactyly, Dela... |
OMIM:113000 |
Verloove Vanhorick-Brubakk Syndrome |
|
Micrognathia, Limb undergrowth, Non-midline cleft lip, Cleft palate |
ORPHA:3429 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen... |
OMIM:208540 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Abnormal sternum morphology, Peau d'orange, High palate, Cerebral hemorrhage,... |
OMIM:177850 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Shoulder girdle muscle weakne... |
ORPHA:254892 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Bifid tongue, Hip dislocation, Pectus excavatum, Short palm,... |
ORPHA:3107 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Micrognathia, Taurodon... |
ORPHA:819 |
Glossopharyngeal Neuralgia |
|
Vascular dilatation, Syncope, Tongue pain, Abnormal palate morphology, Jaw claudication, Bradycardia |
ORPHA:221098 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Abnormal bleeding, Bruising susceptibility, Epistaxis, Pleural effusion, Ed... |
ORPHA:167 |
Snakebite Envenomation |
|
Hypotension, Rhabdomyolysis, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracrania... |
ORPHA:449285 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Arachnodactyly, Ventricular septal defect, Muscular dystrophy, Pyloric s... |
ORPHA:2461 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aplasia of the 1st metacarpal, Eruption failure, Unilateral radial aplasia, High palate, Long phi... |
ORPHA:476126 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Gait ataxia, Ventriculomegaly, Inability to walk, Hydrocephalus, Agenesis of corpus callosum |
OMIM:616362 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Coarctati... |
OMIM:618494 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor... |
ORPHA:289 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Microdontia, Everted lower lip vermilion, Smooth philtrum, T... |
OMIM:612289 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Short thorax, Inguinal hernia, Brachydactyly, Umbilical hernia, Abnormal femoral epiphysis morpho... |
ORPHA:3218 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Camptodactyly, Cleft lip,... |
OMIM:619123 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Short middle phalanx of the 2nd finger, Micr... |
OMIM:136140 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Mi... |
OMIM:617061 |
Peters-Plus Syndrome |
|
Polyhydramnios, Short lingual frenulum, Biliary tract abnormality, Pectus excavatum, Thin vermili... |
OMIM:261540 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pachygyria, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Tricuspid regurgitation |
OMIM:263520 |
Orofaciodigital Syndrome Ix |
|
Short tibia, High palate, Camptodactyly, Median cleft lip, Accessory oral frenulum, Cleft palate,... |
OMIM:258865 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ventriculomegaly, Cerebellar hypoplasia |
OMIM:619556 |
Roifman Syndrome |
|
Short toe, Hip contracture, Ventricular septal defect, Short metacarpal, Long philtrum, Noncompac... |
OMIM:616651 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Ventriculomegaly, Pachygyria |
ORPHA:66629 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Monosomy 9P |
|
Hernia, High palate, Long philtrum, Abnormality of the tarsal bones, Congenital diaphragmatic her... |
ORPHA:261112 |
Cryoglobulinemia, Familial Mixed |
|
Anasarca, Hypertension |
OMIM:123550 |
Kohlschutter-Tonz Syndrome-Like |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:619229 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Upper limb spasticity, Gait disturbance, Tremor, Hyperkinetic movements |
ORPHA:457240 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Long philtrum, Congestive heart failure, Aortic regurgitation, Inguina... |
OMIM:123700 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Osteolytic defects of the phalanges of the hand, Hip subluxation, Co... |
OMIM:182250 |
1P31P32 Microdeletion Syndrome |
|
Chiari type I malformation, Intraventricular hemorrhage, Ventriculomegaly |
ORPHA:401986 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia |
ORPHA:79332 |
Hereditary Hyperekplexia |
|
Umbilical hernia, Hernia, Hip dislocation, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Cerebellar hemisphere hypoplasia, Ventricular septal defect, Limb hyper... |
OMIM:619909 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Long philtrum, Short 1st metacarpal, Bilateral cleft lip, Micrognathia... |
OMIM:164745 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Stiff Skin Syndrome |
|
Knee flexion contracture, Bicuspid aortic valve, Elbow flexion contracture, Camptodactyly |
OMIM:184900 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... |
ORPHA:1425 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
Larsen Syndrome |
|
Cleft upper lip, Ventricular septal defect, Short metacarpal, Hypodontia, Aortic aneurysm, Atrial... |
OMIM:150250 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar hemisphere hypoplasia, Ventricular septal defect, Lissencephaly, Hypoplasia of the pon... |
OMIM:618325 |
Vascular Ehlers-Danlos Syndrome |
|
Gingivitis, Ascending tubular aorta aneurysm, Microdontia, Abnormal oral frenulum morphology, Pec... |
ORPHA:286 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Pachygyria, Tetralogy of Fallot, Polymicrogyria |
ORPHA:2328 |
Developmental And Epileptic Encephalopathy 64 |
|
Ventriculomegaly, Cerebellar hypoplasia |
OMIM:618004 |
Orofacial Cleft 13 |
|
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening |
OMIM:613857 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Polyhydramnios, Flexion contracture, Delayed eruption of teeth, Bifid uv... |
OMIM:601803 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Cerebellar hypopl... |
OMIM:619306 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending aortic d... |
OMIM:619825 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Toe syndactyly, Hip dislocation, Pectus excavatum, Cleft palate, Ventr... |
ORPHA:199 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Bradycardia |
OMIM:220120 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Hallux valgus, Elbow flexion contracture, Elevated ... |
OMIM:256040 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Angina pectoris, Supravalvular aortic stenosis, Hepatic steatosis, Abnormal... |
ORPHA:391665 |
Asparagine Synthetase Deficiency |
|
Simplified gyral pattern, Hypoplasia of the pons, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:615574 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Long philtrum, Deep philtrum, Micrognathia, Bifid uvula, Abnormal oral... |
ORPHA:404440 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Abnormal thorax morphology, Camptodactyly, Hepatoblastoma, Overlapping... |
ORPHA:798 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Prolonged neonatal jaundice, Umbilical hernia |
ORPHA:95715 |
Narp Syndrome |
|
Ventriculomegaly |
ORPHA:644 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Alpha-Mannosidosis, Infantile Form |
|
Genu valgum, Thickened ribs, Widely spaced teeth, Hypoplastic inferior ilia, Cortical thickening ... |
ORPHA:309282 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Cleft upper lip, High palate, Foot oligodactyly, Hypoplasia of the premaxilla, Long ... |
ORPHA:1106 |
Partial Deletion Of The Short Arm Of Chromosome 7 |
|
Aplasia of the distal phalanx of the 5th finger, Retrognathia, Patent ductus arteriosus after bir... |
ORPHA:261911 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, Panniculitis, Hepatomegaly, ... |
OMIM:612541 |
Beck-Fahrner Syndrome |
|
Extra-axial cerebrospinal fluid accumulation, Ventricular septal defect, Ventriculomegaly, Facial... |
OMIM:618798 |
Cardiospondylocarpofacial Syndrome |
|
Synostosis of carpal bones, Mitral valve prolapse, Failure of eruption of permanent teeth, Mitral... |
ORPHA:3238 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Wide mouth, Thick lower lip vermilion, Bicuspid ... |
OMIM:618027 |
Bartsocas-Papas Syndrome |
|
Absent thumb, Micrognathia, Median cleft lip, Narrow mouth, Aplasia/Hypoplasia of the distal phal... |
ORPHA:1234 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Deep philt... |
OMIM:606003 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, Abnormality of neuronal migration, Cerebellar hypoplasia, Abnormal cerebellar v... |
ORPHA:2671 |
Tetraamelia Syndrome 1 |
|
Asplenia, Cleft upper lip, Gastroschisis, Anal atresia, Congenital diaphragmatic hernia, Hypoplas... |
OMIM:273395 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Systolic heart murmur, Elevated hepatic transaminase, Portal inflamm... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:611182 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac... |
ORPHA:402075 |
Lissencephaly Due To Lis1 Mutation |
|
Ventriculomegaly, Agyria, Anterior predominant thick cortex pachygyria, Dysgyria, Posterior predo... |
ORPHA:95232 |
Ververi-Brady Syndrome |
|
High palate, Wide mouth, Everted lower lip vermilion, Thin upper lip vermilion, Smooth philtrum, ... |
OMIM:617982 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Coffin-Lowry Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Abnormal mitral valve morphology, Optic a... |
ORPHA:192 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hydromyelia, Aganglionic megacolon, Hip dislocation, Hypertension, Corneal neovascularization, At... |
OMIM:308205 |
Simple Cryoglobulinemia |
|
Raynaud phenomenon, Purpura, Congestive heart failure, Hypertension, Pericarditis, Myocardial inf... |
ORPHA:91139 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:300590 |
Insulin-Like Growth Factor I, Resistance To |
|
Retrognathia, Patent foramen ovale, High palate, Small hand, Ventricular septal defect, Long phil... |
OMIM:270450 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Stroke, Dil... |
ORPHA:1054 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Spasticity, Optic atrophy, Cerebellar hypoplasia, Hydrocephalus, Cerebellar atrophy, Cerebellar v... |
OMIM:618590 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Beta-Thalassemia Major |
|
Genu valgum, Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Hepatocellular carcinoma, Dila... |
ORPHA:231214 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Flexion contracture, High palate, Epiphyseal stippling, Short humerus, Submucous cleft hard palat... |
OMIM:222765 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Congestive heart failure, Myocardial infarction, Premature coronary artery ather... |
OMIM:176670 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Ventriculomegaly, Agenesis of corpus callosum |
OMIM:618603 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:255120 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Roifman-Chitayat Syndrome |
|
Short metatarsal, Short metacarpal, Thin lower lip vermilion, Cone-shaped epiphysis, Umbilical he... |
OMIM:613328 |
Fanconi Anemia, Complementation Group W |
|
Chiari malformation, Decreased response to growth hormone stimulation test, Ventriculomegaly |
OMIM:617784 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of the anus, Abnormal cardiac septum morphology, Abnormal rectum morphology, Mitral v... |
ORPHA:2556 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... |
OMIM:616564 |
Turnpenny-Fry Syndrome |
|
Polyhydramnios, Tapered finger, Microdontia, Pectus excavatum, Overlapping toe, Hypoplasia of the... |
OMIM:618371 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Ventricular septal defect, Spina bifida, Micrognathia, Hydranencep... |
ORPHA:1393 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Ventricular septal defect, Type... |
OMIM:619542 |
Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Paroxysmal atrial fibrillation, Autophagic vacuol... |
OMIM:164310 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Pulmonary artery stenosis |
ORPHA:85202 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Simplified gyral pattern, Cerebellar vermis atrophy, Dilated cardiomyopathy |
OMIM:616541 |
Cog8-Cdg |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly |
ORPHA:95428 |
Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Skeletal muscle... |
ORPHA:682 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Short 5th finger, Short foot, Hypodontia, Hypoplasia of the odontoid process, Hy... |
OMIM:305400 |
Whipple Disease |
|
Hypotension, Pedal edema, Hydrocephalus, Pericarditis, Myocardial infarction, Myositis, Gastroint... |
ORPHA:3452 |
Dystonia, Juvenile-Onset |
|
Cleft palate, Cleft upper lip, Hypoplastic scapulae |
OMIM:607371 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Dilatation of the ventricular cavity, Abnormal cardiac ventricular function, Hernia, Vascular dil... |
ORPHA:90349 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Hypertension... |
ORPHA:369929 |
Leukocyte Adhesion Deficiency Type Ii |
|
Narrow palate, Deep philtrum, Scarring, Severe periodontitis, Overlapping toe, Protruding tongue,... |
ORPHA:99843 |
Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Short lingual frenulum, Everted lower lip vermilion, Smoo... |
OMIM:601358 |
Spinal Arteriovenous Metameric Syndrome |
|
Arteriovenous malformation, Spinal arteriovenous malformation, Congestive heart failure, Cutaneou... |
ORPHA:53721 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Lip pit, Cleft palate |
ORPHA:1072 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
ORPHA:290 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased CSF lactate, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:312170 |
Pyridoxine-Dependent Epilepsy |
|
Ventriculomegaly |
ORPHA:3006 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ventriculomegaly |
ORPHA:48431 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
Genetic Transient Congenital Hypothyroidism |
|
Edema, Prolonged neonatal jaundice, Macroglossia, Umbilical hernia |
ORPHA:226316 |
Triosephosphate Isomerase Deficiency |
|
Death in infancy, Jaundice, Congestive heart failure, Cholecystitis, Myopathy, Skeletal muscle at... |
OMIM:615512 |
Tolchin-Le Caignec Syndrome |
|
Diastasis recti, High palate, Cardiac rhabdomyoma, Clinodactyly of the 5th finger, Submucous clef... |
OMIM:618971 |
Oculodentodigital Dysplasia |
|
Enamel hypoplasia, Cleft upper lip, High palate, Short middle phalanx of the 5th finger, Selectiv... |
OMIM:164200 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly, Abnormal cardiac septum morphology |
ORPHA:238769 |
Methylcobalamin Deficiency Type Cble |
|
Hypoplasia of the brainstem, Hydrocephalus, Hypertension, Ventriculomegaly |
ORPHA:2169 |
Bainbridge-Ropers Syndrome |
|
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation |
OMIM:615485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Short philtrum, Atrial septal def... |
OMIM:301039 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Hydrocephalus, P... |
ORPHA:91348 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Elevated hepatic transaminase, Hepatic steatosis, Myopathy, Skeletal muscl... |
ORPHA:42 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
47,Xyy Syndrome |
|
Cerebellar dysplasia, Hydrocephalus, Dysgenesis of the cerebellar vermis |
ORPHA:8 |
Blepharonasofacial Malformation Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Long philtrum, Cleft palate |
ORPHA:1252 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Congestive heart failure, Stroke |
ORPHA:3077 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Ascending tubular aorta aneurysm, Hypoplastic right heart, Reduced sub... |
OMIM:617403 |
Basal Cell Nevus Syndrome 1 |
|
Cleft upper lip, Mandibular prognathia, Short 4th metacarpal, Odontogenic keratocysts of the jaw,... |
OMIM:109400 |
Branchioskeletogenital Syndrome |
|
Blepharochalasis, Bifid uvula, Submucous cleft hard palate, Short philtrum, Pectus excavatum, Ant... |
ORPHA:1299 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Syncope, Submucous cleft hard palate, Posteriorly placed tongue, Premature... |
OMIM:192445 |
6Q25 Microdeletion Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:251056 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Anterior hypopituitarism... |
ORPHA:91350 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, High palate, Everted lower lip vermilion, Microme... |
ORPHA:1784 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select... |
OMIM:305620 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of... |
OMIM:608670 |
Leigh Syndrome |
|
Hepatic failure, Ventricular septal defect, Optic atrophy, Multiple joint contractures, Congestiv... |
ORPHA:506 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, High palate, Ventricular septal defect, Deep philtrum, Hip dislocation, Cli... |
OMIM:613884 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Atrial septal defect, Facial hypotonia, Smooth philtrum |
OMIM:614526 |
Peho Syndrome |
|
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, Optic atrophy |
ORPHA:2836 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Enlarged cerebellum, Ataxia |
OMIM:620047 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Ventricular septal defect, Atrial septal defect, Everted lower lip vermilion, Pulm... |
ORPHA:75389 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Non-midline cleft lip, Tooth agenesis, Bilateral cleft lip and palate |
ORPHA:2003 |
Congenital Myopathy 13 |
|
Ventriculomegaly |
OMIM:255995 |
Amme Complex |
|
Diastasis recti, Inguinal hernia, Thin upper lip vermilion, Sandal gap, Prominent fingertip pads,... |
OMIM:300194 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, High palate, Ventricular septal defect, Wide mouth |
OMIM:613398 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Limb hypertonia, Thick lower lip vermilion, I... |
OMIM:616920 |
Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Multiple lipomas, Restrictive cardiomyopathy, High pala... |
ORPHA:758 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Pr... |
ORPHA:423 |
Gapo Syndrome |
|
Bell-shaped thorax, Eruption failure, Long philtrum, Thick lower lip vermilion, Retinal arteriola... |
OMIM:230740 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Truncus arteriosus, Perimembranous ve... |
OMIM:612474 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Abnormal cardiac septum morphology, Macroglossia, Coarctation of aorta, Aorti... |
ORPHA:96147 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gray matter heterotopia, Lateral ventricle dilatation, Abnormal cortical gyration, Hydrocephalus,... |
OMIM:210710 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Taurodontia, Bifid uv... |
OMIM:129400 |
Bresek Syndrome |
|
Neonatal death, Hydrocephalus |
ORPHA:85284 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:618321 |
Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Short 4th metacarpal, Ventricular septal defect, Natal... |
OMIM:146510 |
Tarp Syndrome |
|
Short sternum, High palate, Glossoptosis, Tongue nodules, Hypoplasia of the radius, Clinodactyly,... |
OMIM:311900 |
Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy, Ventriculomegaly |
ORPHA:85278 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Simplified gyral pattern, Increased CSF lactate, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:618253 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Increased circulating lactate dehydrogenase concentration, Rhabd... |
ORPHA:94093 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Cerebellar hypoplasia |
OMIM:613989 |
Melas |
|
Pulmonary arterial hypertension, Concentric hypertrophic cardiomyopathy, Abnormal mitochondria in... |
ORPHA:550 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Simplified gyral pattern, Cerebellar vermis atrophy, Ventriculomegaly, Polymicrogyria |
OMIM:300354 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Gitelman Syndrome |
|
Abnormal T-wave, Rhabdomyolysis, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-... |
ORPHA:358 |
Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia, Posterolateral diaphragmatic hernia |
OMIM:194080 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Short finger, Hand... |
ORPHA:226307 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Abnormal coronary artery... |
OMIM:605275 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Cam... |
ORPHA:158687 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vascular dilatation, Deep philtrum, Oligohydramnios, Congenital diaphragmatic hernia, Thin upper ... |
OMIM:617641 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Hydrops fetalis, Preaxial hand polydactyly, Short foot, Ectopic anus, Short ribs... |
ORPHA:93271 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Spasticity, Abnormal pyramidal sign, Ventriculomegaly, Periventricular heterotopia, Cerebellar hy... |
ORPHA:468631 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Microcephaly-Micromelia Syndrome |
|
Simplified gyral pattern, Neonatal death, Aqueductal stenosis |
OMIM:251230 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Cerebellar hypoplasia |
ORPHA:163966 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Hydrocephalus, Neonatal death |
OMIM:187600 |
Osteogenesis Imperfecta, Type Xviii |
|
Femoral bowing, Thin ribs, Bowing of the long bones, Umbilical hernia, Abnormality of the dentition |
OMIM:617952 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:619797 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Rhabdomyolysis, Concentric hypertrophic cardiomyo... |
OMIM:610505 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Congestive heart failure |
OMIM:275000 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Lipoatrophy, High palate, Hyperextensibility of the finger joints, Reduced ... |
OMIM:616914 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Hepatic failure, High palate, Ventricular septal defect, Narrow chest, Pulmonary ... |
ORPHA:1655 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Noonan Syndrome 4 |
|
Polyhydramnios, Ventricular septal defect, Abnormal bleeding, Bruising susceptibility, Atrial sep... |
OMIM:610733 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation, Facial palsy |
OMIM:310400 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Flexion contracture, Abnormal bleeding, Congestive heart failure, Hepatic steatos... |
OMIM:616271 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy, Elevated hepatic transaminase, Congestive heart ... |
ORPHA:14 |
Hurler Syndrome |
|
Endocardial fibroelastosis, Camptodactyly of finger, Splenomegaly, Retinopathy, Abnormal nerve co... |
ORPHA:93473 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Hydrocephalus, Gait disturbance, Agenesis... |
ORPHA:1812 |
Doors Syndrome |
|
Polyhydramnios, Short 5th finger, Short lingual frenulum, Spina bifida occulta, Sirenomelia, Clef... |
ORPHA:79500 |
Ciliary Dyskinesia, Primary, 25 |
|
Polysplenia, Situs inversus totalis, Dextrocardia |
OMIM:615482 |
Rahman Syndrome |
|
Ventriculomegaly |
OMIM:617537 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Petechiae, Purpura, Hypertension, Congestive heart failure, Hepatosplenom... |
ORPHA:85450 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, High palate, Umbilical hernia |
OMIM:614520 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Ventriculomegaly, Cerebellar hypoplasia |
OMIM:615182 |
Trichothiodystrophy |
|
Enamel hypoplasia, Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Thorac... |
ORPHA:33364 |
Developmental And Epileptic Encephalopathy 1 |
|
Ventriculomegaly |
OMIM:308350 |
Peters Plus Syndrome |
|
Polyhydramnios, Abnormal cardiac septum morphology, Toe syndactyly, Spina bifida occulta, Bicuspi... |
ORPHA:709 |
Williams-Beuren Syndrome |
|
Flexion contracture, Coronary artery stenosis, Hallux valgus, Colonic diverticula, Microdontia, R... |
OMIM:194050 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:71212 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Ventriculomegaly |
ORPHA:251009 |
Linear Verrucous Nevus Syndrome |
|
Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2611 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Microretrognathia, Thi... |
ORPHA:457193 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Patent foramen ovale, Short sternum, High palate, Ventricular septal de... |
OMIM:620113 |
Witteveen-Kolk Syndrome |
|
Polyhydramnios, Toe syndactyly, Overlapping toe, Radial deviation of finger, Smooth philtrum, Con... |
OMIM:613406 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebellar hypoplasia, Dysplastic... |
OMIM:616900 |
Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Secundum atrial septal defec... |
OMIM:612562 |
Man1B1-Cdg |
|
Resting tremor, Periventricular heterotopia, Broad-based gait, Cerebellar hypoplasia |
ORPHA:397941 |
Alagille Syndrome 2 |
|
Hypertension, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pu... |
OMIM:610205 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Natal tooth, Short ribs, Micrognathia, Complete atrioventricular canal defect, Cleft... |
OMIM:617925 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Flexion contracture, Hydrocephalus, Camptodactyly, Atrial septal defect... |
ORPHA:314588 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Short philtrum, Tetralogy of Fallot, High palate, Ventricular septal defect |
ORPHA:3306 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Bifid uvula, High palate, Median cleft lip |
OMIM:155145 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Abnormal cerebellum morphology, Bilateral vestibular schwannoma, Hem... |
ORPHA:637 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Submucous cleft hard palate, Scapular winging, Unilateral cleft palate, Unilateral ... |
OMIM:619122 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida, Hip dislocation, Anal atresia, Intestinal malrotation, Abnormalit... |
ORPHA:93929 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p... |
ORPHA:261330 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Endove Syndrome, Limb-Brain Type |
|
Toe syndactyly, Talar aplasia, Triangular tibia, Aplasia of the 3rd finger, Umbilical hernia |
OMIM:619218 |
6Q Terminal Deletion Syndrome |
|
Gait ataxia, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Cerebellar... |
ORPHA:75857 |
Aceruloplasminemia |
|
Cirrhosis, Hepatic fibrosis, Retinal degeneration, Macular degeneration, Torticollis, Congestive ... |
ORPHA:48818 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Short femoral neck, Coxa vara, Long philtrum, Velopharyngeal insufficiency, R... |
OMIM:614701 |
Phace Association |
|
Patent ductus arteriosus, Horner syndrome, Vascular dilatation, Ventricular septal defect, Optic ... |
OMIM:606519 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation... |
ORPHA:672 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Ventriculomegaly |
OMIM:615502 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Hypertonia, Ventriculomegaly, Periventricular nodular heterotopia, Cerebellar hypoplasia |
OMIM:619188 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:612936 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Hip dislocation... |
OMIM:274000 |
Digeorge Syndrome |
|
Patent ductus arteriosus, Femoral hernia, High palate, Truncus arteriosus, Ventricular septal def... |
OMIM:188400 |
Tetanus |
|
Tachycardia, Bradycardia, Hypertension |
ORPHA:3299 |
Pmm2-Cdg |
|
Hepatic fibrosis, High palate, Multiple joint contractures, Long philtrum, Abnormal subcutaneous ... |
ORPHA:79318 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Sickle Cell Disease |
|
Retinopathy, Jaundice, Splenic infarction, Hypertension, Hepatomegaly, Cholelithiasis, Cardiomega... |
OMIM:603903 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Encephalocele, Hydrops fetalis, Hydrocephalus, Abnormal heart morphology |
ORPHA:1865 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Hypoplasia of the radius, Apla... |
OMIM:142900 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:619869 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median maxillary centr... |
OMIM:147250 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Situs inversus totalis, Dextrocar... |
OMIM:615994 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Calf muscle hypertrophy, Abnormal cerebral vascu... |
ORPHA:79474 |
Transketolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Abnormal coronary arte... |
ORPHA:488618 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Abnormal cardiac septum morphology, Tibial torsion, Hi... |
ORPHA:3320 |
Marburg Hemorrhagic Fever |
|
Hypotension, Hypovolemia, Petechiae, Jaundice, Pancreatitis, Elevated hepatic transaminase, Abnor... |
ORPHA:99826 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, Tapered finger, Pectus excavatum, Slender finger, Smooth philtrum, Patent foramen... |
OMIM:619841 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Retroperitoneal fibrosis, Abnormal aortic valve morphology, Cong... |
ORPHA:35687 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Short femoral neck, Ventricular septal defect, Bifid uvula, Atrial sept... |
OMIM:617159 |
Listeriosis |
|
Endocarditis, Hypoglycorrhachia, Rhabdomyolysis, Hepatic granulomatosis, Liver abscess, Jaundice,... |
ORPHA:533 |
Ogden Syndrome |
|
Ventricular septal defect, Ventriculomegaly, Cardiogenic shock, Torticollis, Pulmonary artery ste... |
ORPHA:276432 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Tenorio Syndrome |
|
Hydrocephalus, Raynaud phenomenon, Ventriculomegaly, Syncope |
OMIM:616260 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Hyperextensibility of the finger joints, Mitral valve prolapse, Aortic regu... |
OMIM:609008 |
3Mc Syndrome |
|
Diastasis recti, Caudal appendage, Hip dislocation, Radioulnar synostosis, Spina bifida occulta, ... |
ORPHA:293843 |
Avian Influenza |
|
Rhabdomyolysis, Hepatitis, Elevated hepatic transaminase, Congestive heart failure, Pleural effus... |
ORPHA:454836 |
Hypermobile Ehlers-Danlos Syndrome |
|
Gingivitis, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aorta aneurys... |
ORPHA:285 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Cleft upper lip, Tetraamelia, Abnormality of the dentition |
OMIM:273400 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Bilateral cleft lip, Hydrocephalus, Semilobar holoprosencephaly, Me... |
OMIM:610828 |
Stromme Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Optic nerve hypoplasia, Stillbirth, Agenesis of corpus call... |
OMIM:243605 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615067 |
Wrinkly Skin Syndrome |
|
High palate, Coxa vara, Long philtrum, Delayed eruption of teeth, Slender long bone, Microdontia,... |
OMIM:278250 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ventriculomegaly |
ORPHA:1933 |
Dysosteosclerosis |
|
Ventricular septal defect, Delayed eruption of teeth, Craniofacial hyperostosis, Hypoplastic vert... |
ORPHA:1782 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Simplified gyral pattern, Pachygy... |
OMIM:619179 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Genu valgum, Smooth philtrum, Umbilical hernia |
ORPHA:1778 |
Tetrasomy 18P |
|
Syncope, Achalasia, Abnormality of neuronal migration |
ORPHA:3307 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Cerebellar hypoplasia |
ORPHA:3137 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Abnormal bleeding, Congestive heart failure, Hepatomegaly |
ORPHA:75564 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Wrinkly Skin Syndrome |
|
Decreased muscle mass, High palate, Coxa vara, Slender long bones with narrow diaphyses, Delayed ... |
ORPHA:2834 |
Hallermann-Streiff Syndrome |
|
Small hand, Natal tooth, Short ribs, Clinodactyly of the 5th finger, Congestive heart failure, Su... |
ORPHA:2108 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Conotruncal defect, Natal tooth, Macroglossia, Everted lower lip vermilion... |
OMIM:610253 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Congestive heart failure |
ORPHA:90037 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Congestive heart ... |
OMIM:171420 |
Acrofacial Dysostosis, Rodríguez Type |
|
Arrhinencephaly, Aqueductal stenosis |
ORPHA:1788 |
Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Skeletal muscle atrop... |
OMIM:601701 |
Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation |
OMIM:617557 |
Geleophysic Dysplasia 2 |
|
Pulmonary arterial hypertension, Short foot, Long philtrum, Mitral stenosis, Mitral valve prolaps... |
OMIM:614185 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Immunodeficiency 49 |
|
Natal tooth, Short philtrum, Pulmonary artery stenosis, Umbilical hernia |
OMIM:617237 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Polyhydramnios, Ascending tubular aorta aneurysm, Multiple joint contrac... |
ORPHA:1662 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Bilateral camptodactyly, Toe syndactyly, Long hallux, Oligodontia, Smooth philtrum, Umbilical hernia |
OMIM:619234 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Micrognathia, Ventricular septal defect, Natal tooth |
OMIM:616901 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Arrhythmia |
ORPHA:98375 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Ventriculomegaly |
ORPHA:500180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Ventriculomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Cerebellar atrophy, Increased CSF ... |
OMIM:604377 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal cerebellar vermis morphology, Ventriculomegaly, Cerebellar hypoplasia |
ORPHA:3224 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Ventriculomegaly |
OMIM:618314 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypoplasia |
OMIM:617807 |
Holoprosencephaly 4 |
|
Semilobar holoprosencephaly, Median cleft lip and palate, Median cleft lip |
OMIM:142946 |
Loeys-Dietz Syndrome 1 |
|
Retrognathia, Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatati... |
OMIM:609192 |
Fragile X Syndrome |
|
Mitral valve prolapse, Periventricular heterotopia |
OMIM:300624 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Ventriculomegaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Increased CSF ... |
ORPHA:500144 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Encephalocele, Wide mouth, Med... |
ORPHA:1827 |
Trisomy 17P |
|
Patent ductus arteriosus, Flexion contracture, Hydrocephalus, Macroglossia, Hypoplastic left hear... |
ORPHA:261290 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure |
OMIM:160980 |
Rasmussen Subacute Encephalitis |
|
Increased CSF protein concentration, Ventriculomegaly, Abnormal cerebrospinal fluid morphology |
ORPHA:1929 |
Schuurs-Hoeijmakers Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum mo... |
OMIM:615009 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Patent ductus arteriosus, Short 5th finger, Small hand, Ventricular septal defect, High palate, L... |
OMIM:610759 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Retrognathia, Flexion contracture, High palate, Ventricular septal defect, Long philtrum, Atrial ... |
OMIM:617452 |
Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Short foot, Hypoplastic frontal sinuses, Small hand, Ventricular septal... |
OMIM:300712 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Spasticity, Cerebellar dysplasia, Ventriculomegaly, Optic atrophy, Cerebellar hypoplasia, Cerebel... |
OMIM:253280 |
Chime Syndrome |
|
Pulmonary valve atresia, Aplastic clavicle, Ventricular septal defect, Abnormality of the dentiti... |
ORPHA:3474 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Congestiv... |
ORPHA:91347 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Hip subluxation,... |
ORPHA:444077 |
Ivic Syndrome |
|
Absent thumb, Short femur, Pectoralis major hypoplasia, Short 1st metacarpal, Carpal synostosis, ... |
OMIM:147750 |
3Mc Syndrome 2 |
|
Partial abdominal muscle agenesis, Diastasis recti, Cleft upper lip, High palate, Torticollis, Pr... |
OMIM:265050 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Microdontia, Campto... |
OMIM:617360 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Cerebral Visual Impairment |
|
Optic atrophy, Cerebral palsy, Oculomotor apraxia, Clumsiness, Hydrocephalus, Optic nerve hypopla... |
ORPHA:447788 |
Nail-Patella Syndrome |
|
Biceps aplasia, Cleft upper lip, Patellar hypoplasia, Patellar aplasia, Quadriceps aplasia, Spina... |
OMIM:161200 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft palate, Cleft upper lip |
OMIM:244200 |
Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension,... |
OMIM:268800 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Micrognathia, Short philtrum, Narrow mouth, Cleft palate, Thick vermil... |
ORPHA:447980 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft palate, Cleft upper lip, Tooth agenesis |
OMIM:147950 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Spasticity, Gray matter heterotopia, Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia |
OMIM:617008 |
Ethylene Glycol Poisoning |
|
Hypotension, Cerebral edema, Pulmonary edema, Renal tubular epithelial necrosis, Congestive heart... |
ORPHA:31826 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Atrial septal defect, Patent ductus a... |
ORPHA:2519 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Scalp-Ear-Nipple Syndrome |
|
Multiple lipomas, Supraventricular tachycardia, 2-3 toe syndactyly, Finger syndactyly, 3-4 finger... |
OMIM:181270 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Knobloch Syndrome |
|
Patent ductus arteriosus, Macular degeneration, Hydrocephalus, Vitreoretinopathy, Dextrocardia, R... |
ORPHA:1571 |
Gaucher Disease |
|
Abnormal pericardium morphology, Mitral valve calcification, Splenomegaly, Pulmonary arterial hyp... |
ORPHA:355 |
Short Stature-Micrognathia Syndrome |
|
Retrognathia, High palate, Rhizomelia, Ventricular septal defect, Micrognathia, Skeletal muscle h... |
OMIM:617164 |
Kury-Isidor Syndrome |
|
High palate, Long philtrum, Ventricular septal defect, Widely spaced teeth, Triangular mouth, Ten... |
OMIM:619762 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ventriculomegaly, Optic atrophy, Hemiparesis, Hydrocephalus, Gait disturbance, Upper motor neuron... |
ORPHA:395 |
Kleefstra Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Delayed eruption of teeth, Advanced eruption of... |
ORPHA:261494 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Cleft palate, Cleft upper lip, Varicose veins |
ORPHA:33001 |
Costello Syndrome |
|
Polyhydramnios, Thickened Achilles tendon, Ventricular septal defect, Mitral valve prolapse, Macr... |
ORPHA:3071 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Flexion contracture, High palate, Mitral valve prolapse, Aortic aneurysm... |
ORPHA:115 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Hepatic arteriovenous malformation, Cerebral arteriovenous malformation, Mitral v... |
OMIM:175050 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Esophageal stricture, Abnormal fingertip morphology, Erosion of oral mucosa, R... |
ORPHA:79404 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Patent ductus arteriosus, Atrioventricular canal defect, Short ribs, Hypodontia, Supernumerary to... |
OMIM:617088 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Tachycardia, Jaundice, Congestive heart failure |
ORPHA:90033 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst |
OMIM:617866 |
Cranioectodermal Dysplasia 1 |
|
Microdontia, Malformation of the hepatic ductal plate, Pectus excavatum, Everted lower lip vermil... |
OMIM:218330 |
Orofaciodigital Syndrome Type 1 |
|
Short toe, Lobulated tongue, Vascular dilatation, Lip pit, High palate, Tongue nodules, Micrognat... |
ORPHA:2750 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Facial telangiectasia, Elbow flexion contracture, Camptodactyly, Hepatos... |
OMIM:602782 |
Postaxial Acrofacial Dysostosis |
|
Conical tooth, Cleft upper lip, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, M... |
OMIM:263750 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Non-midline cleft lip, Lip pit, Micrognathia, Thin upper lip vermilion, Cleft... |
ORPHA:1300 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, Patent ductus arteriosus, Hydrocephalus, Elbow contracture, Atrial sept... |
OMIM:618162 |
Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Chiari malformation, Aqueductal stenosis |
ORPHA:93259 |
Radio-Tartaglia Syndrome |
|
Retrognathia, High palate, Ventricular septal defect, Long philtrum, Wide mouth, Micrognathia, Sh... |
OMIM:619312 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Widely spaced teeth, Thick lower lip ve... |
OMIM:280000 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Coxa valga, Hallux valgus, Advanced ossification of carpal ... |
OMIM:271640 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Ventriculomegaly |
OMIM:618707 |
Hyperekplexia 1 |
|
Inguinal hernia, Hip dislocation, Umbilical hernia |
OMIM:149400 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, High palate, Upper lip pit, Deep philtrum, Microdontia, Everted lower lip ... |
ORPHA:1297 |
4Q21 Microdeletion Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Mitral atresia, Short 5th finger, Ventricular septal defect, Everted up... |
OMIM:614609 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, High palate, Ventricular septal defect, Short philtrum, Atrial septal defect, Evert... |
OMIM:616449 |
Johnson Neuroectodermal Syndrome |
|
Everted lower lip vermilion, Carious teeth, Cleft palate, Tetralogy of Fallot, Facial palsy |
ORPHA:2316 |
9P13 Microdeletion Syndrome |
|
High palate, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:324313 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Multiple joint contractures, Clinodactyly of the 5th toe, B... |
ORPHA:264450 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Missing ribs, Bifid uvula, Median clef... |
OMIM:184705 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Clumsiness, Ataxia, Noncommunicating hydrocephalus, Agenesis of corpus callosum |
OMIM:619320 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Transverse facial cleft, Cleft upper lip, Vertebral hypoplasia, Ventric... |
OMIM:164210 |
Rere-Related Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Ventriculomegaly |
ORPHA:494344 |
Oculocerebrorenal Syndrome Of Lowe |
|
Gingivitis, Delayed eruption of teeth, Taurodontia, Hip dislocation, Everted lower lip vermilion,... |
ORPHA:534 |
Meckel Syndrome, Type 6 |
|
Cleft upper lip, Anencephaly, Hydrocephalus, Cleft palate, Occipital encephalocele |
OMIM:612284 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Inferior c... |
ORPHA:444072 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Venous insufficiency |
ORPHA:137608 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Tongue fasciculations, Bradycardia |
OMIM:608800 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Lateral ven... |
ORPHA:177907 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Temtamy Syndrome |
|
Aortic regurgitation, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:218340 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hypoplasia of the premaxilla, Hydrocep... |
OMIM:610829 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Gait disturbance, Ataxia, Tremor, Abnormal heart morphology, C... |
ORPHA:2754 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Mitral valve prolapse, Hypertension, Cerebral berry aneurysm, Mitral regurgi... |
OMIM:173900 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
49,Xxxyy Syndrome |
|
Increased circulating gonadotropin level, Ventriculomegaly |
ORPHA:261534 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Lissencephaly, Hepatomegaly, Right ventricular hypertrophy, Arthrogryp... |
OMIM:613404 |
Icf Syndrome |
|
Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia |
ORPHA:2268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Ventricular septal defect, Long philtrum, Dilation of Virchow-Robin spaces... |
OMIM:300998 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Abnormal lateral ventric... |
ORPHA:1855 |
Arima Syndrome |
|
Dilated fourth ventricle, Gray matter heterotopia, Hypoplasia of the brainstem, Molar tooth sign ... |
OMIM:243910 |
Trisomy 9P |
|
Non-midline cleft lip, Downturned corners of mouth, Impacted tooth, Dental crowding |
ORPHA:236 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil... |
ORPHA:500 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios, Genu valgum, Metaphyseal dysplasia, Coxa vara, Short femoral neck, Abnormality of... |
ORPHA:93316 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Patent ductus arteriosus, Cleft upper lip, High palate, Micrognathia, Recurrent sinusitis, Atrial... |
OMIM:213980 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Perisylvian polymicrogyria, Ventriculomegaly |
OMIM:619121 |
Cole-Carpenter Syndrome 1 |
|
Hydrocephalus, Communicating hydrocephalus |
OMIM:112240 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Raynaud phenomenon, Dilated cardiomyopathy, Hypertension, Hepatosplenomega... |
OMIM:615688 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Perimembranous ventricular septal defect, Contracture... |
ORPHA:83617 |
Brittle Cornea Syndrome |
|
Hernia, Hallux valgus, Corneal scarring, Mitral valve prolapse, Hip dysplasia, Camptodactyly, Bru... |
ORPHA:90354 |
Acromelic Frontonasal Dysostosis |
|
Retrocerebellar cyst, Gray matter heterotopia, Encephalocele, Ventriculomegaly, Choroid plexus cy... |
OMIM:603671 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Edema, Anasarca |
OMIM:254900 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage, Cerebellar hypoplasia |
OMIM:618886 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Protrusio acetabuli, Congestive heart failure, Bruising susceptibility, Inguinal hernia, Congenit... |
OMIM:225400 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Deep philtrum, Micrognathia, Atrial septal defect, Malar flattening, C... |
OMIM:610536 |
Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Camptodactyly, Elbow contracture, Pectus excavatum, Dislocated radial head, Cleft pa... |
OMIM:617137 |
Spondylo-Ocular Syndrome |
|
Long philtrum, Thin vermilion border, Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
Codas Syndrome |
|
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Abnormality of dental mor... |
ORPHA:1458 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short ha... |
OMIM:186500 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Polyhydramnios, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated ... |
OMIM:617156 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Broad middle phalanx of finger, S... |
ORPHA:221139 |
Microform Holoprosencephaly |
|
Short philtrum, EMG: myopathic abnormalities, Solitary median maxillary central incisor, Tented u... |
ORPHA:280200 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Retrognathia, High palate, Ventricular septal defect, Long philtrum, Atrial septal defect, Thin u... |
ORPHA:505237 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdu... |
ORPHA:79282 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Hepatic fibrosis, Cirrhosis, Abnormality of the liver, Ventricular sept... |
ORPHA:84064 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Chiari malformation, Agenesis of corpus ca... |
OMIM:609053 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Ventriculomegaly |
OMIM:611087 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Ventriculomegaly, Atrial septal defect, Aortic regurgitation, Mitral r... |
ORPHA:254346 |
Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Mitral... |
OMIM:609942 |
Dopa-Responsive Dystonia |
|
Abnormal CSF biopterin concentration, Decreased CSF homovanillic acid concentration, Ventriculome... |
ORPHA:255 |
Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Dehydration, M... |
ORPHA:31824 |
Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Natal tooth, Bilateral cleft lip, Micrognathia, Hydrocephalus, Median ... |
OMIM:612651 |
Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ventricular septal defect, Avascular n... |
OMIM:222470 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
2-3 toe syndactyly, Clinodactyly of the 4th toe, Microdontia, Clinodactyly of the 5th toe, Short ... |
OMIM:261990 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion |
OMIM:181000 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Retrognathia, Ventricular septal defect, Wide mouth, Diastema, Everted lower lip vermilion, Protr... |
OMIM:212066 |
Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Long philtrum, Micro... |
OMIM:619268 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Abnormal heart morphology |
ORPHA:531151 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal medulla oblongata morphology, In... |
ORPHA:206448 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Atrial septa... |
OMIM:257300 |
Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Encephalocele, Cleft palate |
ORPHA:1791 |
Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Cerebral ischemia, Neopl... |
ORPHA:54595 |
Dysosteosclerosis |
|
Short diaphyses, Short sternum, Broad femoral neck, Broad ribs, High palate, Natal tooth, Short r... |
OMIM:224300 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Enterocolitis, Villous atrophy, Hepatitis,... |
ORPHA:391487 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Hernia, Aortic aneurysm, Hip dislocation, Congestive heart ... |
ORPHA:90348 |
Joubert Syndrome 7 |
|
Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI |
OMIM:611560 |
Orofacial Cleft 15 |
|
Palate fistula, Bilateral cleft lip, Bilateral cleft palate, Agenesis of lateral incisor |
OMIM:616788 |
Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Firm muscles, Macrogloss... |
OMIM:232300 |
Brittle Cornea Syndrome 2 |
|
Bruising susceptibility, Inguinal hernia, Umbilical hernia |
OMIM:614170 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Retrocerebellar cyst, Ventriculomegaly, Cerebellar hypoplasia, Disorganization of the anterior ce... |
OMIM:300486 |
Sturge-Weber Syndrome |
|
Pulmonary embolism, Optic atrophy, Abnormal choroid morphology, Abnormal cerebral vascular morpho... |
ORPHA:3205 |
Alagille Syndrome |
|
Ventricular septal defect, Micrognathia, Short philtrum, Atrial septal defect, Hypoplasia of the ... |
ORPHA:52 |
Pfeiffer Syndrome |
|
Hydrocephalus, Chiari malformation |
OMIM:101600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Enlarged fossa interpeduncularis, Elongated superior cerebellar pedu... |
OMIM:213300 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Lateral ventricle dilata... |
OMIM:615873 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Mandibular prognathia, Mitral valve prolapse, Missing ribs, Spina bi... |
OMIM:151100 |
Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Enlarged thorax, Flexion contracture, Ascending tubular aorta aneurysm, Pec... |
ORPHA:284979 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Dilatation of the ventricular cavity, Thickened Achilles tendon, Abnormalit... |
ORPHA:85438 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Secundum atrial septal defect, Hydrocephalus, Dilation of Virchow-Robin ... |
OMIM:619951 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Cardiac arrest, Dilated cardiomyopathy, Hepatomegaly |
ORPHA:20 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
Alexander Disease |
|
Chorea, Spasticity, Abnormal pyramidal sign, Tetraplegia, Aqueductal stenosis, Abnormal autonomic... |
ORPHA:58 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Ventriculomegaly, Agenesis of corpus callosum, Increased CSF protein concentration |
OMIM:218000 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:616683 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Ventriculomegaly, Lissencephaly, Cerebellar hypoplasia |
OMIM:616038 |
Griscelli Syndrome |
|
Spasticity, Hydrocephalus, Encephalocele, Ataxia |
ORPHA:381 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:300868 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Mitral stenosis, Agenesi... |
OMIM:617260 |
Sweet Syndrome |
|
Myositis, Dilated cardiomyopathy, Small vessel vasculitis |
ORPHA:3243 |
Curry-Jones Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:1553 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ventriculomegaly |
ORPHA:88639 |
Adnp Syndrome |
|
Polydactyly, 2-3 toe syndactyly, Abnormal finger morphology, Thick lower lip vermilion, Advanced ... |
ORPHA:404448 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Ventriculomegaly |
ORPHA:466934 |
Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Fraser Syndrome |
|
Anal stenosis, Dental malocclusion, Cleft upper lip, Wide pubic symphysis, Finger syndactyly, Ect... |
ORPHA:2052 |
Parkes Weber Syndrome |
|
Vascular dilatation, Bounding pulse, Lower limb muscle weakness, Arteriovenous malformation, Cere... |
ORPHA:90307 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Increased CSF lactate, Atrophy/Degeneration affecting the brainstem, Ventricu... |
OMIM:614946 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Distal amyotrophy, Abnormal spinal cord morphology |
ORPHA:139578 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Ventriculomegaly |
OMIM:617788 |
Charge Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Aortic arch aneurysm, Aqueductal stenosis, Abnormal ca... |
ORPHA:138 |
Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:614961 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Chiari type I malformation, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:613735 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Ventricular septal defect, Short forearm, Short femoral neck, Craniofac... |
ORPHA:1708 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Ventriculomegaly, Cardiomyopathy |
OMIM:617710 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... |
ORPHA:276621 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Molar tooth sign on MRI |
OMIM:615665 |
Apert Syndrome |
|
Chiari malformation, Optic atrophy, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:87 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chorea, Ventriculomegaly, Rigidity, Communicating hydrocephalus, Poor motor coordination, Ataxia,... |
ORPHA:25 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Cholelithiasis, Cirrhosis, Abnormality of the liver, Jaundice, H... |
ORPHA:231222 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Short 5th finger, Bifid uvula, Camptodactyly, Orofacial cleft, Aortic ro... |
OMIM:607872 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Wide mouth, Toe syndactyly, Microdontia, Thin vermilion border, Omphaloc... |
ORPHA:920 |
Triopia |
|
Cleft palate, Encephalocele, Median cleft lip |
ORPHA:3374 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Flexion contracture, Camptodactyly, Hydrocephalus, Atrial septal defect |
OMIM:207410 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Hydrocephalus, Neonatal death, Congestive heart failure |
OMIM:616482 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... |
OMIM:134780 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Cranial nerve compression, Optic atrophy, Facial paralysis |
OMIM:259710 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Cardiomegaly, Vascular dilatation, Hypertension |
OMIM:613320 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Flexion contracture, Hypertrophic cardiomyopathy, Sho... |
ORPHA:365 |
Meier-Gorlin Syndrome 6 |
|
Patellar aplasia, Hip dysplasia, Sandal gap, Cleft palate, Short middle phalanx of finger, Umbili... |
OMIM:616835 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Hepatomegaly... |
ORPHA:255210 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Pleura... |
OMIM:265300 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:618547 |
Distal Monosomy 12Q |
|
Patent ductus arteriosus, Patent foramen ovale, Congenital hypertrophy of left ventricle, Long ph... |
ORPHA:96149 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Ventriculomegaly |
ORPHA:157941 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Aplasia of the 1st metacarpal, Absent thumb, Tapered finger, Aplasia of the dista... |
ORPHA:3472 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental malocclusion, Abnormality of upper lip vermillion, Pierre-Robin sequence, Small hand, Vent... |
ORPHA:251028 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Ventriculomegaly, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Hepato... |
OMIM:608013 |
Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Mandibular prognathia, Short metacarpal, Wide mouth, Oligodontia, Short distal p... |
OMIM:201180 |
Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Scarring, Hip dislocation, Pectus excavatum, Short palm, Aplasia/hy... |
ORPHA:198 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Pulmonic s... |
OMIM:618343 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Heart murmur, Interrupted aortic arch, Hydro... |
ORPHA:163979 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Mit... |
OMIM:617168 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Visceral Steatosis, Congenital |
|
Neonatal death, Abnormal bleeding, Myocardial steatosis |
OMIM:228100 |
Omodysplasia 1 |
|
Short tibia, Anterolateral radial head dislocation, Ventricular septal defect, Long philtrum, Atr... |
OMIM:258315 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Hepatic steatosis, Smooth philtrum, Genu valgum, Ventricular septa... |
OMIM:619475 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cerebellar hemisphere hypoplasia, Chiari malformation, Ischemic stroke, Lateral ventricle dilatat... |
ORPHA:500150 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Jaundice, Neonatal death, Bradycardia |
OMIM:617248 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Short finger, Broad finger, Broad phalanx of the toes, Cleft palate, U... |
ORPHA:1934 |
Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Mitral valve prolapse, Bruising susceptibility, Epistaxis, Prol... |
OMIM:193400 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:615508 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Yellow Fever |
|
Elevated circulating alanine aminotransferase concentration, Pancreatic hyperplasia, Reduced left... |
ORPHA:99829 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Short sternum, Lobulated tongue, Thoracic kyphosis, Bifid uvula, Postaxial f... |
ORPHA:2752 |
Congenital Tracheomalacia |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular septal defect, Single vent... |
ORPHA:95430 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Adducted thumb, Inguinal hernia, Esophagitis, Umbilical hernia |
ORPHA:79351 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Ventriculomegaly |
ORPHA:289483 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension, Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:300896 |
Aspartylglucosaminuria |
|
Pectus carinatum, Malabsorption, Macroglossia, Abnormal morphology of ulna, Inguinal hernia, Hepa... |
ORPHA:93 |
Galloway-Mowat Syndrome 9 |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:619603 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid... |
ORPHA:508488 |
Tarp Syndrome |
|
Short sternum, Pierre-Robin sequence, Finger syndactyly, Glossoptosis, Tongue nodules, Abnormal d... |
ORPHA:2886 |
Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Bifid uvula, Spina bifida occulta, Cleft palate |
OMIM:119500 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Ventriculomegaly |
ORPHA:589821 |
Exstrophy-Epispadias Complex |
|
Abdominal wall defect, Spina bifida, Anal atresia, Abnormality of the abdominal wall, Inguinal he... |
ORPHA:322 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Biliary cirrhosis, Aortic arch aneurysm, Short 4th metacarpal, Enlarged thorax, Elevated hepatic ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Biliary cirrhosis, Aortic arch aneurysm, Short 4th metacarpal, Enlarged thorax, Elevated hepatic ... |
ORPHA:99228 |
Monosomy X |
|
Biliary cirrhosis, Aortic arch aneurysm, Short 4th metacarpal, Enlarged thorax, Elevated hepatic ... |
ORPHA:99226 |
Turner Syndrome |
|
Biliary cirrhosis, Aortic arch aneurysm, Short 4th metacarpal, Enlarged thorax, Elevated hepatic ... |
ORPHA:881 |
Menke-Hennekam Syndrome 1 |
|
Flexion contracture, High palate, Everted upper lip vermilion, Long philtrum, Cutaneous syndactyl... |
OMIM:618332 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal hyper... |
OMIM:614947 |
Bilateral Polymicrogyria |
|
Perisylvian polymicrogyria, Ventriculomegaly, 4-layered lissencephaly, Aplasia/Hypoplasia of the ... |
ORPHA:268940 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Ventriculomegaly, Cerebellar edema, Myelopathy, Cervical myelopathy, Increased CSF lactate |
OMIM:617186 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Hyperactivity, Flexion contracture, Ventriculomegaly, Dilation of Virchow-Robin spaces, Bicuspid ... |
OMIM:619720 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect |
OMIM:619721 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Ventricular septal defect, High, narrow palate, Micrognathia, M... |
ORPHA:193 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Bicuspid aortic valve, Elbow flexion contracture, Optic nerve hypoplasia |
OMIM:618156 |
Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta... |
OMIM:258850 |
Jacobsen Syndrome |
|
Flexion contracture, Ventricular septal defect, Optic atrophy, Macular hypoplasia, Hydrocephalus,... |
OMIM:147791 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Congestive heart ... |
OMIM:171300 |
H Syndrome |
|
Cleft upper lip, Hydrocephalus, Camptodactyly, Gingival overgrowth, Varicose veins |
ORPHA:168569 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Chiari malformation, Optic atrophy, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:123790 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Ventriculomegaly |
OMIM:617903 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Periventricular nodular heterotopia, Cerebellar vermis hypoplasia |
OMIM:619135 |
Stickler Syndrome |
|
Cleft upper lip, Long philtrum, Advanced eruption of teeth, Micrognathia, Mitral valve prolapse, ... |
ORPHA:828 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Ventriculomegaly |
ORPHA:431361 |
19Q13.11 Microdeletion Syndrome |
|
Retrognathia, Ventricular septal defect, Wide mouth, Solitary median maxillary central incisor, T... |
ORPHA:217346 |
Wolf-Hirschhorn Syndrome |
|
Short upper lip, Cleft upper lip, Decreased muscle mass, Ventricular septal defect, Craniofacial ... |
OMIM:194190 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Foot joint contracture |
OMIM:619641 |
Renal Agenesis |
|
Oligohydramnios, Hypertension, Ventricular septal defect |
ORPHA:411709 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Skeletal muscle atrophy, Dilated cardiomyopathy |
ORPHA:89842 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal defect, Bifid uvula |
OMIM:300472 |
Curry-Jones Syndrome |
|
Ventriculomegaly, Occipital meningocele, Chiari type I malformation, Lipomyelomeningocele, Agenes... |
OMIM:601707 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Cardiofaciocutaneous Syndrome |
|
Lymphedema, Pulmonic stenosis, Hydrocephalus, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:1340 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Facial telangiectasia, Ventriculomegaly |
OMIM:615851 |
Orofaciodigital Syndrome Type 4 |
|
Retrognathia, Aplasia/Hypoplasia of the tibia, Camptodactyly of finger, Micrognathia, Oral synech... |
ORPHA:2753 |
Mckusick-Kaufman Syndrome |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Finger syndactyly, Ectopic anus... |
ORPHA:2473 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Ventriculomegaly |
OMIM:618381 |
Orofaciodigital Syndrome Xix |
|
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Toe syndactyly, ... |
OMIM:620107 |
Neuroocular Syndrome |
|
Patent foramen ovale, Tapered finger, Hyperextensibility of the finger joints, Tibial torsion, Wi... |
OMIM:619539 |
Familial Renal Glucosuria |
|
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
Martin-Probst Syndrome |
|
Dental malocclusion, Telangiectasia, Wide mouth, Thick lower lip vermilion, Umbilical hernia |
OMIM:300519 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia, Macroglossia, Umbilical hernia |
OMIM:218700 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Pectus excavatum, Hepatic steatosis, Bleeding with minor or no tra... |
OMIM:619525 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Reflex asystolic syncope, A... |
ORPHA:79329 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:79323 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Ventriculomegaly, Polymicrogyria |
ORPHA:457485 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft palate, Cleft upper lip |
ORPHA:96181 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Gray matter heterotopia, Camptodactyly |
OMIM:619694 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Rhizomelia, Ventricular septal defect, Micrognathia, Atrial septal d... |
OMIM:614114 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Short foot, Ventricular septal defect, Micrognathia, Short distal phalanx of th... |
OMIM:620073 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar vermis atrophy, Colpocephaly, Heart murmur, Cerebellar hypoplasia, Macrogyria, Polymic... |
OMIM:614866 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Micrognathia, Tetraphocomelia, Elbow flexion contracture... |
OMIM:268300 |
49,Xyyyy Syndrome |
|
Increased circulating gonadotropin level, Ventriculomegaly |
ORPHA:99330 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia |
OMIM:606763 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Aqueductal stenosis, Elongated superior cerebellar peduncle,... |
OMIM:619512 |
Thyroid Ectopia |
|
Jaundice, Macroglossia, Umbilical hernia |
ORPHA:95712 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly, Cardiomyopathy |
ORPHA:88618 |
Vacterl With Hydrocephalus |
|
Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Pyruvate Dehydrogenase Deficiency |
|
Ventriculomegaly |
ORPHA:765 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Rod-cone dystrophy, Splenomegaly, Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon |
OMIM:601374 |
Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Mandibular prognathia, High palate, Ventricula... |
ORPHA:261337 |
Orotic Aciduria |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Cleft upper lip, Semilobar holoprosencephaly, Lobar holoprosencep... |
OMIM:615465 |
Oeis Complex |
|
11 pairs of ribs, Duplicated colon, Myelomeningocele, Anal atresia, Intestinal malrotation, Conge... |
OMIM:258040 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Optic atrophy |
ORPHA:44 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Microdontia, Bifid uvula, Camptodactyly, Hip dislocation, Pectus excavatum, Smoot... |
OMIM:613458 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Endocardial fibroelastosis, Mitral regurgitation, Coarctation of abdominal aorta, Cardiomyopathy |
OMIM:226100 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Ventriculomegaly |
ORPHA:2083 |
Galloway-Mowat Syndrome 3 |
|
Ventriculomegaly, Simplified gyral pattern, Hypertension, Lissencephaly, Pachygyria, Cerebellar a... |
OMIM:617729 |
X Small Rings |
|
Aortic root aneurysm, Upper limb undergrowth, Ventricular septal defect, Long philtrum, Mitral st... |
ORPHA:96201 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal cerebellum morphology, Increased CSF protein concentration, Abnormal brainstem MRI signa... |
ORPHA:68 |
Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Ve... |
OMIM:107480 |
Ablepharon-Macrostomia Syndrome |
|
Short upper lip, Ventral hernia, Short metacarpal, Cutaneous finger syndactyly, Toe syndactyly, W... |
OMIM:200110 |
Coloboma, Ocular, Autosomal Dominant |
|
Ventriculomegaly |
OMIM:120200 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... |
OMIM:618748 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Extra-axial cerebrospinal fluid accumulation, Hypertrophic cardiomyopathy, Ventriculomegaly, Cere... |
OMIM:619383 |
Desmosterolosis |
|
Patent ductus arteriosus, Ventriculomegaly, Joint contracture of the hand, Hydrocephalus, Total a... |
OMIM:602398 |
Sotos Syndrome |
|
Patent ductus arteriosus, Bilateral camptodactyly, Pedal edema, Flexion contracture, Hip contract... |
ORPHA:821 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... |
ORPHA:2211 |
Sotos Syndrome |
|
Patent ductus arteriosus, Mandibular prognathia, Narrow palate, Ventricular septal defect, High p... |
OMIM:117550 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Bifid tongue, Short ribs, Absent tibia, Hypoplasia of the ulna, Cleft palate, Ha... |
OMIM:613091 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
Roberts Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Aplasia/Hypoplasia of the thumb, Cleft upper... |
ORPHA:3103 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Splenomegaly, Bacterial endocarditis, Hepatic fibrosis, Ventricu... |
ORPHA:2072 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... |
ORPHA:29072 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Wide mou... |
OMIM:300967 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Interrupted aortic arch, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:250989 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Ventriculomegaly, Optic atrophy, Limb hypertonia, Hydrocephalus, Hepatosplenomeg... |
OMIM:259720 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Hydrocephalus, Abnormality of retinal ... |
ORPHA:585 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Polyhydramnios, Patent ductus art... |
ORPHA:141127 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Pfeiffer Syndrome Type 3 |
|
Chiari malformation, Aqueductal stenosis |
ORPHA:93260 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Ventricular septal defect |
OMIM:615503 |
Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Hydrocephalus, Hepatomegaly, Facial paralysis, Splenomegaly, Facial palsy |
OMIM:259700 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Knee flexion contracture, Right bundle branch block, High palate, Long philtrum, Reduced subcutan... |
OMIM:617402 |
Kyphomelic Dysplasia |
|
Cleft upper lip, Short metacarpal, Micrognathia, Short femur, Micromelia, Cleft palate, Short hum... |
OMIM:211350 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, High palate, Ventricular se... |
OMIM:617506 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Ascending tubular aorta aneurysm, High palate, Ventricular septal ... |
ORPHA:453499 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:617011 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615444 |
Luscan-Lumish Syndrome |
|
Chiari malformation, Ventriculomegaly |
OMIM:616831 |
Fraser Syndrome 1 |
|
Dental malocclusion, Aplasia/Hypoplasia of the thumb, Difficulty in tongue movements, Cleft upper... |
OMIM:219000 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Meier-Gorlin Syndrome 7 |
|
High palate, Ventricular septal defect, Atrial septal defect, Narrow mouth, Complete atrioventric... |
OMIM:617063 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Coach Syndrome 1 |
|
Encephalocele, Molar tooth sign on MRI, Hypertension, Aplasia/Hypoplasia of the cerebellar vermis... |
OMIM:216360 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Ventriculomegaly |
ORPHA:2031 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Ventriculomegaly |
ORPHA:404473 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Hydrocephalus, Olivopontocerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... |
ORPHA:457284 |
Developmental And Epileptic Encephalopathy 84 |
|
Ventriculomegaly |
OMIM:618792 |
Kaufman Oculocerebrofacial Syndrome |
|
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Coarctation of aorta,... |
OMIM:244450 |
Fucosidosis |
|
Abnormality of the gallbladder, Cardiomegaly, Decreased muscle mass, Hepatomegaly |
ORPHA:349 |
3Q29 Microduplication Syndrome |
|
High palate, Ventricular septal defect, Deep philtrum, Camptodactyly of toe, Cleft palate, Abnorm... |
ORPHA:251038 |
Shprintzen Omphalocele Syndrome |
|
Narrow chest, Thin vermilion border, Omphalocele, Anal atresia |
OMIM:182210 |
Femoral-Facial Syndrome |
|
Ventriculomegaly |
ORPHA:1988 |
Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Ventricular septal defect, Natal tooth,... |
OMIM:615948 |
Mosaic Trisomy 20 |
|
Retrognathia, Ventricular septal defect, Abnormal mitral valve morphology, Craniofacial asymmetry... |
ORPHA:1724 |
Van Esch-O'Driscoll Syndrome |
|
Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Bifid uvula, Atrial... |
OMIM:301030 |
Floating-Harbor Syndrome |
|
Microdontia, Dislocated radial head, Celiac disease, Avascular necrosis of the capital femoral ep... |
ORPHA:2044 |
Warburg Micro Syndrome 3 |
|
Ventriculomegaly, Polymicrogyria |
OMIM:614222 |
Cerebrofaciothoracic Dysplasia |
|
Cleft palate, Cleft upper lip, Broad philtrum, Wide mouth |
ORPHA:1394 |
Marshall-Smith Syndrome |
|
Ventriculomegaly, Cerebellar hypoplasia |
ORPHA:561 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the midbrain, Hypoplasia of the pons, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:616202 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Encephalocele, Optic atrophy, Anencephaly, Hydrocephalus, Abnormal ch... |
ORPHA:564 |
Coccidioidomycosis |
|
Abnormal retinal morphology, Abnormality of the liver, Hypoglycorrhachia, Cerebral ischemia, CSF ... |
ORPHA:228123 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth, Ventricular septal defect |
OMIM:234050 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerve hypoplasia, Dandy-Walker malformation... |
OMIM:605627 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Congenital Disorder Of Glycosylation, Type If |
|
Ventriculomegaly |
OMIM:609180 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology, Congestive heart failu... |
ORPHA:94147 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Short metacarpal, Micrognathia, Short distal phalanx of finger, Thick ... |
OMIM:250410 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Short toe, High palate, Ventricular septal defect, Micrognathia, Interr... |
OMIM:164280 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Encephalocele |
OMIM:224400 |
Grange Syndrome |
|
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertensi... |
OMIM:602531 |
Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus |
ORPHA:2969 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Narrow palate, Ventricular septal defect, Abnormality of dental morphol... |
OMIM:277600 |
Cohen-Gibson Syndrome |
|
Patent ductus arteriosus, Hypoplastic iliac wing, Flexion contracture, Coxa valga, Camptodactyly,... |
OMIM:617561 |
Xq12-Q13.3 Duplication Syndrome |
|
Ventriculomegaly |
ORPHA:314389 |
Mend Syndrome |
|
Hyperactivity, Limb hypertonia, Abnormal auditory evoked potentials, Hydrocephalus, Abnormal hear... |
ORPHA:401973 |
Nijmegen Breakage Syndrome |
|
Cleft upper lip, Deep philtrum, Micrognathia, Malar prominence, Sinusitis, Cleft palate, Rhabdomy... |
OMIM:251260 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Spasticity, Hydrocephalus, Optic atrophy |
ORPHA:220295 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Mitral atresia, Aortic valve atresia, Microvesicular hepatic steatosis, Death in infancy, Bicuspi... |
OMIM:220111 |
Hoyeraal-Hreidarsson Syndrome |
|
Ventriculomegaly, Cerebellar hypoplasia |
ORPHA:3322 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Hydrocephalus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:115150 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly, Lymphedema, Palpebral edema |
OMIM:606232 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:618222 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Molar tooth sign on MRI, Inferior cerebell... |
OMIM:619476 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Short foot, Ventricular septal defect, Long philtrum, Deep philtrum, Mic... |
ORPHA:251014 |
Frontofacionasal Dysplasia |
|
Hypoplasia of the frontal bone, Cleft upper lip, Cranium bifidum occultum, Bifid uvula, Malar fla... |
OMIM:229400 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Hypertension, Aqueductal stenosis |
OMIM:162200 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:613744 |
Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Radial deviation of finger, Cleft palate, Ventricular septal defect,... |
OMIM:163950 |
Goldberg-Shprintzen Syndrome |
|
Small hand, Limb hypertonia, Ventricular septal defect, Oligodontia, Short philtrum, Hypoplasia o... |
OMIM:609460 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Long philtrum, Jejunal atresia, Syndactyly, Ileal atresia, Omphalocele |
OMIM:618820 |
Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Small hand, Esophageal atresia, Wide mouth, Bifid uvula, Downturn... |
OMIM:618779 |
Malan Syndrome |
|
Ventriculomegaly |
OMIM:614753 |
Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction, Concentric hypertrophic cardiomyopathy, Abnormal EKG,... |
OMIM:601992 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormality of thalamus morphology, CSF pleocytosis, CSF ly... |
ORPHA:79139 |
African Trypanosomiasis |
|
Third degree atrioventricular block, Ventriculomegaly, Abnormal EKG, Papilledema, Jaundice, Conge... |
ORPHA:3385 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
Steinert Myotonic Dystrophy |
|
Supraventricular tachycardia, Abnormality of masticatory muscle, Dilated cardiomyopathy, Pelvic g... |
ORPHA:273 |
Momo Syndrome |
|
Short sternum, Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Delaye... |
ORPHA:2563 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth |
OMIM:617667 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypoplasia of the frontal bone, Cranium bifidum occultum, Pectoral muscl... |
ORPHA:306542 |
1P36 Deletion Syndrome |
|
Patent ductus arteriosus, Camptodactyly of finger, Telangiectasia, Aortic arch aneurysm, Abnormal... |
ORPHA:1606 |
Costello Syndrome |
|
Polyhydramnios, Lymphangiectasis, Ventricular septal defect, Ventriculomegaly, Mitral valve prola... |
OMIM:218040 |
Alg11-Cdg |
|
Gray matter heterotopia, Limb hypertonia, Ataxia, Hypertonia, Opisthotonus |
ORPHA:280071 |
Momo Syndrome |
|
Short sternum, Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick ... |
OMIM:157980 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Developmental And Epileptic Encephalopathy 80 |
|
Ventriculomegaly, Polymicrogyria |
OMIM:618580 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, Wide mouth, High, narrow palate, Oligodontia, Camptodactyly, Narrow mo... |
OMIM:272950 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal hypothalamus morphology, Abnormal midbrain morphology, Abnormality of the... |
ORPHA:314621 |
Sheehan Syndrome |
|
Orthostatic hypotension, Bradycardia, Palpitations |
ORPHA:91355 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Anal atresia, Thin upper lip vermilion, Omphalocele, Downturned corners of mouth |
ORPHA:3164 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Ventriculomegaly |
ORPHA:97355 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Vascular dilatation, Ventricular septal defect, Aplasia of metacarpal bones, Hypopl... |
OMIM:607323 |
Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Communicating hydrocephalus |
OMIM:244400 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Ventriculomegaly, Abnormal brainstem morphology, Posterior pit... |
ORPHA:464311 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydranencephaly, Hydrocephalus |
ORPHA:2839 |
Chops Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Long philtrum, Anomalo... |
OMIM:616368 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Ventriculomegaly |
ORPHA:440713 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, Ventriculomegaly, Pachygyria |
OMIM:612513 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Atrial septal defect |
OMIM:610978 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Hip contracture, Ventricular septal defect, Elbow flexion contracture, ... |
OMIM:178110 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Retinal hamartoma, Aortic ane... |
ORPHA:805 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, High palate, Ventricular septal defect, Joint contracture of the hand, Mic... |
OMIM:309500 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Delayed eruption of teeth, Bifid ... |
OMIM:300990 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Meningioma |
|
Abnormal cerebellum morphology, Hemiparesis, Hydrocephalus, Neurofibromas, Hemifacial spasm, Atax... |
ORPHA:2495 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Overfriendliness, Ventriculomegaly, Abnormal cardiac septum morphology |
ORPHA:96169 |
Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Absent thumb, Abnormality of the thenar eminence, Ventricular septal defect,... |
ORPHA:124 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hypertensive crisis, Ventriculomegaly |
ORPHA:1358 |
Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Ventricular septal defec... |
OMIM:181450 |
Hand-Foot-Genital Syndrome |
|
Short first metatarsal, Short 1st metacarpal, Ventricular septal defect, Shortening of all middle... |
ORPHA:2438 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Long phil... |
OMIM:613457 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Aganglionic megacolon, Oligodactyly, Abnormal pelvis bone morphology, In... |
ORPHA:2273 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Optic atrophy, Hand muscle atrophy, Spina bifida, Bicuspid aortic valv... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventricular septal defect, Optic atrophy, Hand muscle atrophy, Spina bifida, Bicuspid aortic valv... |
ORPHA:363958 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Cleft soft palate, Long philtrum, Metatarsal synostosis, Oligodactyly, Pr... |
ORPHA:2756 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Patent ductus arteriosus, Vertebral hypoplasia, Ventricular septal defect, Short distal phalanx o... |
ORPHA:79345 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap |
OMIM:216300 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:610651 |
Holoprosencephaly 3 |
|
Central diabetes insipidus, Holoprosencephaly, Ventriculomegaly |
OMIM:142945 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent... |
OMIM:610655 |
Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Wide mouth, Delayed erupti... |
ORPHA:1465 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619185 |
Semilobar Holoprosencephaly |
|
Flexion contracture, High palate, Neural tube defect, Bifid uvula, Hydrocephalus, Median cleft li... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Flexion contracture, High palate, Neural tube defect, Bifid uvula, Hydrocephalus, Median cleft li... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Flexion contracture, High palate, Neural tube defect, Bifid uvula, Hydrocephalus, Median cleft li... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Flexion contracture, High palate, Neural tube defect, Bifid uvula, Hydrocephalus, Median cleft li... |
ORPHA:93924 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Multiple joint contractures, Torticollis,... |
ORPHA:536467 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, Polydactyly, Tapered finger, Ventricular septal defect, Hallux valgus, Cleft soft ... |
ORPHA:268261 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Optic nerve compression, Hydrocephalus, Abnormal pulmonary valve... |
ORPHA:667 |
3Mc Syndrome 3 |
|
Cleft palate, Cleft upper lip, Diastasis recti |
OMIM:248340 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Dental malocclusion, Bifid tongue, Ventricular septal defect, Branchial anomaly, Exaggerated medi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Dental malocclusion, Bifid tongue, Ventricular septal defect, Branchial anomaly, Exaggerated medi... |
ORPHA:352665 |
Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Optic atrophy, Ventriculomegaly, Abnormal peripheral myelination, ... |
OMIM:216400 |
Shashi-Pena Syndrome |
|
Mild fetal ventriculomegaly, Ventriculomegaly |
OMIM:617190 |
Pontocerebellar Hypoplasia, Type 10 |
|
Simplified gyral pattern, Ventriculomegaly |
OMIM:615803 |
Mend Syndrome |
|
Hyperactivity, Macular hypoplasia, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:300960 |
Tbck-Related Intellectual Disability Syndrome |
|
Diastasis recti, Ventricular septal defect, Ventriculomegaly, Macroglossia, Oligohydramnios, Skel... |
ORPHA:488632 |
Familial Multiple Lipomatosis |
|
Ventriculomegaly |
ORPHA:199276 |
Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Cirrhosis, Hyperactivity, Ventricular septal defect, Death in infancy, ... |
OMIM:270400 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology, Bruising susceptibility |
OMIM:227646 |
Zellweger Syndrome |
|
Micrognathia, Abnormality of the tongue, High palate, Ventricular septal defect |
ORPHA:912 |
Carney Complex |
|
Neoplasm of the stomach, Abnormal hard palate morphology, Tongue nodules, Esophageal neoplasm, Ne... |
ORPHA:1359 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Abnormal cardia... |
ORPHA:209905 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
OMIM:241410 |
Phace Syndrome |
|
Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal cardiac septum morphology, Ab... |
ORPHA:42775 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Hypertrophic cardiomyopathy, Ventriculomegaly, Arrhythmia |
OMIM:615471 |
Keutel Syndrome |
|
Ventricular septal defect, Deep philtrum, Shortening of all distal phalanges of the fingers, Chro... |
OMIM:245150 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Cerebellar cortical atrophy, Optic atrophy, Optic nerve hypoplasia |
OMIM:619321 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Patent ductus arteriosus, N... |
ORPHA:3047 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Ventriculomegaly |
ORPHA:348 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, High palate, Ventricular septal defect, Advanced eruption of teeth, Macrog... |
ORPHA:769 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short sternum, Wide distal femoral metaphysis, Short 1st metacarpal, Macroglossia, Atrial septal ... |
OMIM:269150 |
15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Agenesis of corpus callosum, Hydrocephalus, Mitral regurgitation... |
ORPHA:314585 |
Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Colpocephaly, Ventriculomegaly, Tricuspid regurgitation |
OMIM:618460 |
Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Thalamic edema, Ventriculomegaly, Atrophic pituitary gland, D... |
ORPHA:2177 |
Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2612 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Finger joint hypermobility,... |
OMIM:130050 |
Leprosy |
|
Paresthesia, Abnormal autonomic nervous system physiology, Enlarged peripheral nerve, Abnormality... |
ORPHA:548 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Hypertroph... |
OMIM:607721 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Ventriculomegaly, Hepatocellular necro... |
OMIM:618278 |
Mirage Syndrome |
|
Hydrocephalus, Intracranial hemorrhage |
OMIM:617053 |
Achondroplasia |
|
Hydrocephalus, Brain stem compression |
OMIM:100800 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ventriculomegaly |
OMIM:304790 |
Aicardi Syndrome |
|
Cleft upper lip, Small hand, Missing ribs, Prominence of the premaxilla, Short philtrum, Cleft pa... |
ORPHA:50 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time |
ORPHA:49566 |
Aicardi-Goutières Syndrome |
|
Moyamoya phenomenon, Multiple joint contractures, Ventriculomegaly, Arrhinencephaly, Raynaud phen... |
ORPHA:51 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Patent ductus arteriosus, Gray matter heterotopia, Ventricular septal defect, Macroglossia, Hepat... |
OMIM:214100 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Lower-limb joint contracture, Mandibular prognathia, Dilatation of the ventricular cavity, Ventri... |
ORPHA:459070 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Hydrocephalus, Atrial sep... |
ORPHA:363700 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Crane-Heise Syndrome |
|
Ventriculomegaly |
ORPHA:1512 |
Angiostrongyliasis |
|
Ventriculomegaly, CSF pleocytosis |
ORPHA:74 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Arterial rupture, Ventriculomegaly |
OMIM:612394 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Ventriculomegaly, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:300968 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:619580 |
Native American Myopathy |
|
High palate, Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Bifi... |
ORPHA:168572 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased amplitude of sensory action potentials, Peripheral hypomye... |
OMIM:618733 |
Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Patent ductus arteriosus, High palate, Ventricular septal de... |
ORPHA:141099 |
Pyruvate Carboxylase Deficiency |
|
Ventriculomegaly, Increased CSF lactate, Cerebellar gliosis, Subependymal cysts, Increased CSF al... |
ORPHA:3008 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs, Pectus excavatum,... |
OMIM:606851 |
Culler-Jones Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:615849 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Decreased response to growth hormone stimulation test, Telangiectasia of the skin |
OMIM:616007 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Cleft upper lip, Selective tooth agenesis, Microdontia, Absence of Stensen duct, Oligodontia, Sem... |
OMIM:129900 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Ventriculomegaly |
OMIM:617301 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Neonatal death, Hepatomegaly, Polymicrogyria |
OMIM:614887 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Holoprosencephaly 2 |
|
Bifid uvula, Single ventricle, Submucous cleft hard palate, Median cleft lip and palate, Semiloba... |
OMIM:157170 |
Hennekam-Beemer Syndrome |
|
Hypotension, Telangiectasia of the skin, Ventriculomegaly, Arrhythmia |
ORPHA:2135 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Aplasia of the pectoralis major muscle, Ventricular septal defect, Arrhy... |
ORPHA:3138 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Ventriculomegaly |
OMIM:614749 |
De Sanctis-Cacchione Syndrome |
|
Olivopontocerebellar atrophy, Telangiectasia, Ventriculomegaly, Decreased CSF 5-hydroxyindolaceti... |
OMIM:278800 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Widely spa... |
ORPHA:466791 |
Choreoacanthocytosis |
|
Dilated cardiomyopathy, Lateral ventricle dilatation |
ORPHA:2388 |
Gm1-Gangliosidosis, Type Ii |
|
Ventriculomegaly |
OMIM:230600 |
Plaa-Associated Neurodevelopmental Disorder |
|
Cerebellar cortical atrophy, Ventriculomegaly, Abnormal cortical gyration |
ORPHA:521426 |
Nijmegen Breakage Syndrome |
|
Retrognathia, Non-midline cleft lip, Deep philtrum, Skeletal muscle atrophy, Cleft palate, Rhabdo... |
ORPHA:647 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hypoglycorrhachia, Communicating hydrocephalus, Ataxia, Spastic paraplegia, Hypertonia |
ORPHA:168577 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal defect, S... |
OMIM:300707 |
Xfe Progeroid Syndrome |
|
Hypertension, Ventriculomegaly |
OMIM:610965 |
Thauvin-Robinet-Faivre Syndrome |
|
Pedal edema, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose veins |
OMIM:617107 |
Fucosidosis |
|
Flexion contracture, Macroglossia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Elevated circulating thyroid-stimulating hormone concentration, Decreased growth h... |
OMIM:101800 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Lower-limb joint contracture, Ventricular septal defect, Everted upper lip vermilion, Widely spac... |
ORPHA:513456 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Distal arthrogryposis, High palate, Ventricular septal defect, Wide mou... |
OMIM:618268 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, Lateral ventricle dilatation, Cerebellar hypoplasia, Enlarged cerebe... |
ORPHA:261537 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Gait ataxia, Ventriculomegaly, Cerebellar hypoplasia, Communicating hydrocephalus, Difficulty wal... |
ORPHA:457359 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Spasticity, Peripapillary atrophy, Hemiparesis, Hydrocephalus, Hemiplegia, Babinski sign, Tetrapa... |
OMIM:175780 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the brainstem, Ventriculomegaly, Pachygyria, Cerebellar atrophy, Dandy-Walker malfo... |
OMIM:251300 |
Cryptococcosis |
|
Cirrhosis, Abnormal retinal morphology, Vitritis, Hydrocephalus, Abnormal optic nerve morphology,... |
ORPHA:1546 |
Monosomy 22Q13.3 |
|
Dental malocclusion, Lymphedema, Clinodactyly of the 5th finger, Palpebral edema, Dental crowding... |
ORPHA:48652 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Sirenomelia, Cleft palate |
ORPHA:1848 |
Cockayne Syndrome B |
|
Normal pressure hydrocephalus, Optic atrophy, Abnormal peripheral myelination, Abnormal auditory ... |
OMIM:133540 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619562 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Ventriculomegaly, Abnormal cortical gyration |
OMIM:617527 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Congestive heart failure, Optic atrophy, Arrhythmia |
ORPHA:428 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Patent ductus arteriosus, Hyperactivity, Retinopathy, Ventricular septal defect, Vascular ring, B... |
ORPHA:353281 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Ventriculomegaly |
ORPHA:73230 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplastic sacrum, Cleft upper lip, Selective tooth agenesis, Microdontia, Absence of Stensen du... |
OMIM:604292 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Micrognat... |
OMIM:616975 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Triphalangeal thumb, Abnormal sternum morphology, Ventricular septal de... |
OMIM:192350 |
Sanjad-Sakati Syndrome |
|
Ventriculomegaly |
ORPHA:2323 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Cerebellar hypoplasia |
OMIM:614083 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae, Hypoplasia of the musculature, Small hypothenar eminence, Thenar muscle ... |
ORPHA:2463 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Multiple joint contractures, Ventricular septal defect, Ventriculomegal... |
ORPHA:464306 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect, Bruising susceptibility |
OMIM:227645 |
Zttk Syndrome |
|
Patent ductus arteriosus, Flexion contracture, High palate, Small hand, Ventricular septal defect... |
OMIM:617140 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Periventricular heterotopia, Lateral ventricle dilatation, Cerebellar hypoplasia, Hyphema, Enlarg... |
ORPHA:261552 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Simplified gyral pattern, Camptodactyly, Periventricular nodular heterot... |
OMIM:601390 |
Jacobsen Syndrome |
|
Short toe, Ventricular septal defect, Long philtrum, Spina bifida, Missing ribs, Coarctation of a... |
ORPHA:2308 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Absent thumb, Short 2nd finger, Tapered finger, Tapered toe, Toe syndactyly, Hip ... |
OMIM:216340 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Decreased muscle mass, Hip co... |
OMIM:208150 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Ventriculomegaly |
OMIM:252160 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Ventricular hypertrophy, Flexion contracture, High palate, Rhizomelia, S... |
OMIM:143095 |
Prader-Willi Syndrome |
|
Perisylvian polymicrogyria, Ventriculomegaly, Decreased response to growth hormone stimulation te... |
ORPHA:739 |
Raine Syndrome |
|
Neonatal death, Hydrocephalus |
OMIM:259775 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Lip telangiectasia, Telangiectasia of the oral mucosa, Telangiectasia of the skin |
ORPHA:79280 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly, Cerebellar vermis hypoplasia |
OMIM:620083 |
Arboleda-Tham Syndrome |
|
Patent ductus arteriosus, Mandibular prognathia, Upper limb amyotrophy, Ventricular septal defect... |
OMIM:616268 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Anterior pituitary hypoplasia, Perisylvian polymicrogyria, Ventriculomegaly, Decreased response t... |
ORPHA:98754 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Aplasia/Hypoplasia of the cerebellum, Dilated fourth ventricle, Cardiomyopathy, Ventriculomegaly,... |
ORPHA:480880 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Wiedemann-Rautenstrauch Syndrome |
|
Spasticity, Optic atrophy, Cerebellar hypoplasia, Truncal ataxia, Limb hypertonia, Hydrocephalus,... |
ORPHA:3455 |
Craniosynostosis 2 |
|
Triphalangeal thumb, Supernumerary tooth, Cleft soft palate, Brachydactyly |
OMIM:604757 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Baller-Gerold Syndrome |
|
Chiari malformation, Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Spina bifida occulta, ... |
OMIM:218600 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Slc39A8-Cdg |
|
Cerebellar atrophy, Increased CSF lactate, Ventriculomegaly |
ORPHA:468699 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Petechiae, Pulmonary edema, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis... |
ORPHA:340 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse, Camptodact... |
ORPHA:500095 |
Mowat-Wilson Syndrome |
|
Asplenia, Flexion contracture, Tapered finger, Hallux valgus, Abnormal cardiac septum morphology,... |
ORPHA:2152 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Pulmonary arterial hypertension, Submucous cleft soft palate, Cleft soft palate, Patent ductus ar... |
ORPHA:2282 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Tapered finger, Cleft soft palate, Limb hypertonia, Widely spaced teeth, Wide mouth, Reduced subc... |
OMIM:619950 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Flexion contracture, Dilated cardiomyopathy |
ORPHA:79408 |
Alström Syndrome |
|
Gingivitis, Elevated hepatic transaminase, Dorsocervical fat pad, Myocardial fibrosis, Hepatic st... |
ORPHA:64 |
Developmental And Epileptic Encephalopathy 100 |
|
Ventriculomegaly, Pachygyria, Polymicrogyria |
OMIM:619777 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Spasticity, Gray matter heterotopia |
OMIM:618797 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Weakness of facial musculature, Ventricular septal defect, Ventriculomegaly |
OMIM:619418 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Acute Disseminated Encephalomyelitis |
|
CSF lymphocytic pleiocytosis, Abnormal spinal cord morphology, Myelitis, Increased CSF protein co... |
ORPHA:83597 |
Campomelic Dysplasia |
|
Polyhydramnios, Spinal dysraphism, Spina bifida, Hydrocephalus, Contracture of the distal interph... |
OMIM:114290 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Enlarged cerebellum, Colpocephaly |
ORPHA:477993 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Chiari malformation, Paraparesis, Hydrocephalus, Cervical spina bi... |
ORPHA:573278 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Hypoplasia of the ulna, Coarctation of aorta, Pe... |
OMIM:118450 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly |
ORPHA:88628 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:438213 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thick upper lip vermilion, Long philtrum, Ventricular septal defect, Thick lower lip vermilion, S... |
OMIM:619727 |
Branchiooculofacial Syndrome |
|
Cleft upper lip, Lower lip pit, Branchial anomaly, Micrognathia, Elbow flexion contracture, Cleft... |
OMIM:113620 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis, Occipital encephalocele, Ag... |
OMIM:610188 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Petechiae, Purpura, Intracranial hemorrhage, Bruising susceptibility, Inter... |
ORPHA:906 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Hepatosplenomegaly, Mitral regurgitation, Aortic valve stenosis, Splenomegaly |
OMIM:613563 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Aortic regurgitation, Holoprosencephaly, ... |
ORPHA:1052 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Chiari malformation, Hydrocephalus, Hypertension, Elevated circulating luteinizing hormone level,... |
ORPHA:95699 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Wiedemann-Rautenstrauch Syndrome |
|
Chiari malformation, Truncal ataxia, Secundum atrial septal defect, Hydrocephalus, Dandy-Walker m... |
OMIM:264090 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hamstring contractures, Abnormal spinal cord morphology, Facial myokymia, Myelopathy |
ORPHA:139396 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Aortic valve stenosis, Ventriculomegaly, Agenesis of corpus call... |
ORPHA:2396 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Knobloch Syndrome 1 |
|
Ventriculomegaly, Spina bifida occulta, Cerebellar atrophy, Occipital encephalocele, Occipital me... |
OMIM:267750 |
Degcags Syndrome |
|
Retrognathia, Patent foramen ovale, Patent ductus arteriosus, High palate, Ventricular septal def... |
OMIM:619488 |
Dubowitz Syndrome |
|
Spina bifida occulta, Hydrocephalus |
ORPHA:235 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Abnormal heart mo... |
OMIM:154500 |
14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:264200 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Hyperactivity, Ventricular septal defect, Vascula... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Patent ductus arteriosus, Patent foramen ovale, Hyperactivity, Ventricular septal defect, Vascula... |
ORPHA:353277 |
Adrenomyeloneuropathy |
|
Abnormal spinal cord morphology, Dorsal column degeneration, Leg muscle stiffness, Distal lower l... |
ORPHA:139399 |
Coffin-Siris Syndrome 12 |
|
Patent foramen ovale, Noncommunicating hydrocephalus, Chiari malformation, Enlarged cerebellum, T... |
OMIM:619325 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Ulbright-Hodes Syndrome |
|
Short sternum, High palate, Humeroradial synostosis, Short ribs, Short metacarpal, Hypoplasia of ... |
ORPHA:3404 |
Limb-Mammary Syndrome |
|
Toe syndactyly, Hypodontia, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Bifi... |
ORPHA:69085 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia |
OMIM:615546 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Penile Agenesis |
|
Ventricular septal defect, Atrial septal defect, Oligohydramnios |
ORPHA:49 |
Microphthalmia, Syndromic 1 |
|
Cleft upper lip, Tooth malposition, High palate, Joint contracture of the hand, Agenesis of maxil... |
OMIM:309800 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Delayed eruption of teeth, Widely spaced tee... |
OMIM:235730 |
Neurofibromatosis Type 1 |
|
Spinal neurofibromas, Paresthesia, Hydrocephalus, Plexiform neurofibroma, Ataxia, Pheochromocytoma |
ORPHA:636 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Agenesis of corpus callosum, Facial palsy |
ORPHA:2658 |
Holoprosencephaly 1 |
|
Single ventricle, Alobar holoprosencephaly, Ethmocephaly, Median cleft lip and palate |
OMIM:236100 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Perisylvian polymicrogyria, Ventriculomegaly |
OMIM:610442 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria, Colpocephaly |
OMIM:606170 |
Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:176690 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Ineffective esophageal peristalsis, Achalasia, Sinus bradycardia |
OMIM:619482 |
Ring Chromosome 7 Syndrome |
|
Holoprosencephaly, Abnormal cerebellum morphology, Ventriculomegaly, Heart murmur |
ORPHA:1449 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Coarctation of aorta, Prolonged QT interval, Tachycardia, Muscle hypertrop... |
ORPHA:1772 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... |
ORPHA:293987 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, High palate, Short finger,... |
OMIM:619522 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Plexiform neurofibroma, Agenesis of corpus callosum |
OMIM:276300 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Broad-based gait, Polymicrogyria |
OMIM:618918 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Bicuspid aortic valve, Cerebral arteriovenous malformation, Myocardial infarction, Partial anomal... |
OMIM:150230 |
Wilson Disease |
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Face of the giant panda sign |
OMIM:277900 |
Proteus Syndrome |
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Sudden cardiac death, Pulmonary embolism, Gray matter heterotopia, Decreased muscle mass, Enlarge... |
ORPHA:744 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology, Raynaud phenomenon, Vasculitis, Myositis, Arteritis |
ORPHA:289390 |