Gene Summary

Name:
myosin, heavy polypeptide 10, non-muscle
Synonyms:
myosin IIB,  NMHC II-B,  Myhn2,  5730504C04Rik,  NMHC-B,  9330167F11Rik,  nonmuscle myosin heavy chain II-B,  SMemb,  nonmuscle myosin heavy chain IIB,  Myhn-2,  Fltn,  Myosin IIB

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin coloration Myh10em1(IMPC)J HOM E15.5 0.00
abnormal pericardium morphology Myh10em1(IMPC)J HOM E12.5 0.00
hemorrhage Myh10em1(IMPC)J HOM E12.5 0.00
preweaning lethality, complete penetrance Myh10em1(IMPC)J HOM   Early adult 0.00
embryonic growth retardation Myh10em1(IMPC)J HOM E12.5 0.00
hemorrhage Myh10em1(IMPC)J HOM E15.5 0.00
abnormal placenta size Myh10em1(IMPC)J HOM E15.5 0.00
increased fasting circulating glucose level Myh10em1(IMPC)J HET Early adult 3.67×10-05
prenatal lethality prior to heart atrial septation Myh10em1(IMPC)J HOM   E15.5 0.00
edema Myh10em1(IMPC)J HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Gross Morphology Embryo E12.5

Images

12 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Sleep Wake

Wake state (bmp file)

1 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Myh10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Myh10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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