| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the corpu... |
OMIM:604213 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure |
OMIM:617542 |
| Lissencephaly 4 |
|
Primary microcephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum, Colpo... |
OMIM:614019 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Hypoplastic anterior commissure, Agenesis of corpus callosum, Dysgenesis of the basal ganglia, Hy... |
OMIM:600638 |
| Schizencephaly |
|
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
OMIM:269160 |
| Band Heterotopia |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Ventriculomegaly, Primary microcephaly, Respiratory distress, Agenesis of corpus callosum, Polymi... |
ORPHA:171703 |
| Chiari Malformation Type Ii |
|
Cyanosis, Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Insp... |
OMIM:207950 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Lateral ventricle dilatation, Frontal lobe dementia, Dementia, Euphoria, Mem... |
OMIM:221770 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Atelectasis, Bronchiectasis, Respiratory distress, Lissencephaly, Abnormal mucociliary clearance,... |
OMIM:619466 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Panic attack, Dilated third ventricle, Anxiety |
OMIM:619725 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dementia, Lateral ventricle dilatation |
OMIM:615889 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Secondary microcephaly, Cyanotic episode, Death in infancy |
OMIM:610992 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Cyanosis, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Sy... |
ORPHA:1136 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Agenesis of corpus callosum, Dilated third ventricle, Aggressive behavior, Lateral ventricle dila... |
OMIM:619244 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly, Respiratory insufficiency due to muscle weakness |
OMIM:618276 |
| Asbestos Intoxication |
|
Cyanosis, Abnormal pulmonary interstitial morphology, Respiratory failure, Exertional dyspnea, La... |
ORPHA:2302 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle dilatation, Dysgenesis of ... |
ORPHA:300573 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Microcephaly |
OMIM:302000 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:250972 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Cach Syndrome |
|
Cognitive impairment, Lateral ventricle dilatation, Apathy, T2 hypointense thalamus, Progressive ... |
ORPHA:135 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary microcephaly, Simplified gyr... |
ORPHA:300570 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment |
ORPHA:324422 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Frontotemporal dementia, Lateral ventricle dilatation, Apathy, Memory impairment, Progressive lan... |
OMIM:607485 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:613443 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Joubert Syndrome 23 |
|
Apnea, Dysplastic corpus callosum, Tachypnea |
OMIM:616490 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:617296 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respirator... |
OMIM:263000 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Pachygyria, Colpocephaly |
OMIM:614870 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decre... |
OMIM:610913 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Respiratory insufficiency, Periventricular cysts, Cerebral cortical atrophy, Lateral ventricle di... |
OMIM:617668 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatati... |
ORPHA:544488 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative ... |
OMIM:265120 |
| 16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Aggressive behavior, Ventriculomegaly, Hydrocephalus, Skin-picking |
ORPHA:500055 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Type II diabetes mellitus, Glucose intolerance, Osteoporosis, Impaired glucose tolerance |
OMIM:610947 |
| Holoprosencephaly 5 |
|
Central diabetes insipidus, Hydrocephalus, Lateral ventricle dilatation |
OMIM:609637 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Perisylvian polymicrogyria, Ventriculomegaly, Agyria, Dysgenesis of the... |
ORPHA:171680 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Thin corpus callosum, Pachygyria, Abnormality of the anterior commissure |
ORPHA:572013 |
| Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
| Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Abnormal pattern of respiration, Irregular respiration |
OMIM:207720 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Multifocal c... |
ORPHA:488627 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Hypoxemia, ... |
ORPHA:79126 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Hypoplastic anterior commissure, Lissencephaly, Microcephaly, Pachygyria, Hypoplasia of the corpu... |
OMIM:618325 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Lateral ventricle dilatation, Primary microcephaly, Simplified gyral pattern, L... |
ORPHA:284417 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:618736 |
| Congenital Hydrocephalus |
|
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Lissencephaly... |
ORPHA:2185 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Hyd... |
OMIM:619575 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation |
ORPHA:208447 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
| Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re... |
ORPHA:2257 |
| Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Anxiety |
ORPHA:420179 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Agenesis of corpus callosum, Dilated third ventricle, Aggressive behavior, Lateral ventricle dila... |
ORPHA:464738 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Recurrent aspiration pneum... |
ORPHA:79243 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Akinetic mutism, Irritability, Cognitive impairment, Lateral ventricle dilatation |
ORPHA:2148 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation |
OMIM:607596 |
| Craniosynostosis 6 |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:616602 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Anxiety |
OMIM:620075 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Dandy-Walker malformatio... |
ORPHA:397715 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Memory impairment, Mental deterioration |
ORPHA:314404 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Lateral ventricle dilatation, Apnea, Subependymal cysts, Erythe... |
OMIM:610015 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Lateral ventricle dilatation |
OMIM:617854 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Progressive microcephaly, Central apnea |
ORPHA:71277 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea, Small basal ganglia, Microcephaly, Frontal cortical atrophy, Tempor... |
ORPHA:621 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Lung abscess, Decreased DLCO, Inspi... |
OMIM:610910 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation |
OMIM:618914 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Respiratory insufficiency, Abnormal periventricular white matter morphology, Ventriculomegaly, Pe... |
OMIM:616900 |
| Central Neurocytoma |
|
Hydrocephalus, Cerebral calcification, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Mucolipidosis Iv |
|
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination |
OMIM:252650 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:617751 |
| Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... |
ORPHA:96369 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation |
ORPHA:3078 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Hypoplasia of the corpus callosum, Colpocephaly |
ORPHA:401815 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation, Hypothalamic atrophy, Dementia, Emotional lability, Mental deterior... |
ORPHA:2822 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:618606 |
| Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Abnormal cortical gyration, Apnea, Progressive microcephaly, Hypoplasia of the ... |
ORPHA:2524 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:619955 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum |
OMIM:601016 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:618291 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... |
ORPHA:2004 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
| Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Partial agenesis of t... |
OMIM:304050 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Lissencephaly, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Polymicrogyria |
OMIM:614833 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Slc35A2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Dandy-Walker malformation, Latera... |
ORPHA:356961 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:617397 |
| Congenital Tracheomalacia |
|
Cyanosis, Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Aggressive behavior, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:572798 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Microcephaly, Stridor |
OMIM:150260 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy, Partial agenesis of the corpus callosum, Microcephaly, Partial anomal... |
OMIM:617478 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low frustration tolerance, Aggressive behavior, Lateral ventricle dilatation |
ORPHA:457279 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Elevated pulmonary artery pressure, Hemothorax, Pulmonary edema, Exertional dyspnea, Hy... |
ORPHA:199241 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Death in childhood, Microcephaly |
OMIM:604273 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Secondary microcephaly, Dysplastic corpus callosum, Periventricular white matter hyperintensities |
OMIM:619737 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... |
ORPHA:747 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Respiratory insufficiency, Pneumothorax, Subpl... |
ORPHA:60025 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Abnormal basal ganglia MRI signal intensity, Stridor, Respiratory failure, Paroxysmal d... |
ORPHA:444013 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Tetrasomy 5P |
|
Cyanosis, Pulmonary arterial hypertension, Hydrocephalus, Pulmonary hypoplasia, Respiratory distr... |
ORPHA:3309 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum, Death in childhood, Death in infancy |
OMIM:619423 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Distal Monosomy 10Q |
|
Aggressive behavior, Lateral ventricle dilatation, Anxiety |
ORPHA:96148 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
| Halperin-Birk Syndrome |
|
Ventriculomegaly, Aspiration, Semilobar holoprosencephaly, Umbilical hernia, Death in childhood, ... |
OMIM:618651 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation |
OMIM:619847 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Primary microcephaly, Secondary microcephaly, Thick cerebral cortex, Pr... |
ORPHA:357058 |
| Aicardi-Goutieres Syndrome 9 |
|
Irritability, Self-mutilation, Lateral ventricle dilatation |
OMIM:619487 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Simplified gyral pattern, Dysplastic corpus callosum, Microcephaly |
OMIM:620001 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Microcephaly, Polymicrogyria |
OMIM:618731 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Ventriculomegaly, Simplified gyral pattern, Recurrent pneumonia, Microcephaly, Pachygyria, Hypopl... |
OMIM:619179 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventriculomegaly, Hypoplastic anterior commissure, Microcephaly, Hypoplasia of the corpus callosu... |
OMIM:616975 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Choanal Atresia |
|
Cyanosis, Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obstruction, Abno... |
ORPHA:137914 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrop... |
ORPHA:391428 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Simplified gyral pattern, Acrocyanosis, Abnormal cerebral white matter morphology, Progressive mi... |
OMIM:614407 |
| Weiss-Kruszka Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:618619 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation |
ORPHA:565624 |
| Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Lateral ventricle dilatation |
OMIM:611209 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke,... |
ORPHA:2038 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:98914 |
| Aicardi-Goutieres Syndrome 1 |
|
Leukoencephalopathy, Petechiae, Purpura, Acrocyanosis, Morphological abnormality of the pyramidal... |
OMIM:225750 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Microcephaly, Exertional dyspnea |
OMIM:250800 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Pulmonary edema, Hydrocephalus, Cough, Agenesis of corpus callosum, Tachypnea |
ORPHA:137675 |
| Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Lateral ventricle dilatation |
OMIM:615485 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in infancy, Respiratory distress, Apnea, Microcephaly, Cerebral atrophy, Hypopnea... |
OMIM:618426 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Head-bangin... |
ORPHA:177907 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly, Colpocephaly |
OMIM:615219 |
| Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea |
ORPHA:464453 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy... |
ORPHA:434179 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Kohlschutter-Tonz Syndrome-Like |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:619229 |
| Encephalopathy, Ethylmalonic |
|
Focal T2 hyperintense basal ganglia lesion, Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
| Cog5-Cdg |
|
Lateral ventricle dilatation |
ORPHA:263487 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Aggressive behavior, Self-injurious behavior, Ventriculomegaly, Hydrocephalus, Irritability, Colp... |
OMIM:619833 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ventriculomegaly, Thin corpus callosum, Apnea, Microcephaly |
OMIM:619580 |
| Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:300952 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation |
ORPHA:293725 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Cerebral atrophy |
OMIM:261680 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
| Mosaic Trisomy 1 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:1692 |
| Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation, Anxiety |
OMIM:617557 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Secondary microcephaly, Partial agenesis of the corpus callosum, Hypopl... |
OMIM:620113 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Respiratory insufficiency, Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Age... |
OMIM:617260 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Microcephaly, Atelectasis |
ORPHA:896 |
| Weaver Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:277590 |
| Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:609053 |
| Choreoacanthocytosis |
|
Aggressive behavior, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Hair-pu... |
ORPHA:2388 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Respiratory distress |
OMIM:619793 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:619479 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Lateral ventricle dilata... |
OMIM:615873 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Petechiae |
ORPHA:51188 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Focal polymicrogyria, Dysplastic corpus callosum, Microc... |
OMIM:619103 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Respiratory insufficiency, Microcephaly, Sudden episodic apnea |
ORPHA:159 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Hydrocephalus |
ORPHA:99947 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Anomalous pulmonary venous return, Hypoxemia, Tachypnea |
ORPHA:860 |
| Meckel Syndrome 14 |
|
Cyanosis, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest, Holoprosencephaly, Occipi... |
OMIM:619879 |
| Sepsis In Premature Infants |
|
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura, Abnormal respiratory system physiology, Dy... |
ORPHA:90051 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Elevated pulmonary artery pressure, Intercostal retractions, Recurrent pneumonia, Crack... |
ORPHA:1329 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Leukoencephalopathy, Dysplastic c... |
OMIM:614924 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis, Microcephaly |
ORPHA:1867 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Cerebrofacioarticular Syndrome |
|
Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Tracheomalacia, Dysplastic cor... |
ORPHA:314679 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukoencephalopathy, Cyanosis, Cerebral edema, Respiratory insufficiency, Focal T2 hypointense ba... |
OMIM:252010 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Abnormal pleura morphology, Asthma, Acrocyanosis, Purpura, Cutis marmo... |
ORPHA:183 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Abnormal respiratory system physio... |
ORPHA:99106 |
| Spondyloenchondrodysplasia |
|
Abnormal periventricular white matter morphology, Ventriculomegaly, Abnormal lateral ventricle mo... |
ORPHA:1855 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure, Respiratory failure ... |
ORPHA:555874 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Cerebral edema, Pulmonary edema, Abnormal pattern of respiration, Episodic respiratory ... |
ORPHA:31826 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Microcephaly |
ORPHA:3304 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Double Outlet Right Ventricle |
|
Cyanosis, Pulmonary artery atresia, Tachypnea |
ORPHA:3426 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Reduced FE... |
OMIM:187300 |
| Esophageal Atresia |
|
Cyanosis, Bronchitis, Aspiration, Pulmonary hypoplasia, Respiratory distress, Chronic pulmonary o... |
ORPHA:1199 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema, Hydrocephalus, Respiratory distress, Pleural effusion, Apnea |
OMIM:261740 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation,... |
ORPHA:141127 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly |
OMIM:618569 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Lateral ventricle dilatation, Primary microcephaly, Abnormality of the pulmonary artery, Pulmonar... |
ORPHA:261552 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
| Absence Of The Pulmonary Artery |
|
Cyanosis, Pulmonary arterial hypertension, Hypocapnia, Bronchiectasis, Pulmonary edema, Pulmonary... |
ORPHA:980 |
| Tarp Syndrome |
|
Cyanosis, Abnormal corpus callosum morphology, Pulmonary hypoplasia, Apnea |
ORPHA:2886 |
| Unilateral Polymicrogyria |
|
Cyanosis, Perisylvian polymicrogyria, Pulmonary arteriovenous malformation, Epistaxis, Apnea, Mic... |
ORPHA:268943 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Hypoxemia, Dyspnea |
ORPHA:439 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased... |
ORPHA:99103 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:300868 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Ventriculomegaly, Prominent scalp veins, Cutis marmorata, Spina bifida... |
OMIM:151050 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal periventricular white matter morphology, Cerebral edema, Myelitis, Hypointensity of cere... |
ORPHA:83597 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Hydrocephalus, Partial agenesis of the corpus callosum, Progressive... |
OMIM:210710 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resis... |
ORPHA:99104 |
| Goodpasture Syndrome |
|
Cyanosis, Bloody bronchoalveolar lavage fluid, Pulmonary hemorrhage, Nodular pattern on pulmonary... |
OMIM:233450 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Macrogyria, Jaundice, Polymicrogyria, Pachygyria, Death in adolescence, Agenesi... |
OMIM:614866 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Ischemic stroke, Nasal mucosa telangiectasia, Pulmonary arteriov... |
OMIM:610655 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
| 16Q24.3 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly |
ORPHA:261250 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Agene... |
OMIM:301043 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hype... |
ORPHA:99050 |
| Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Pulmonary arterial hypertension... |
OMIM:600376 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Angiokeratoma, Spinal arteriovenous malformation |
ORPHA:53721 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Lateral ventricle dilatation, Hydrocephalus, Self-mutilation, Agenesis of co... |
OMIM:607872 |
| Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Tethered cord, Microcephaly, Sleep apnea, Colpocephaly |
OMIM:618460 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Colpocephaly, Secondary microcephaly, Holoprosencephaly, Absent septum pellucidum, Dysplastic cor... |
OMIM:618820 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Bilateral trilobed lung, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Respirat... |
OMIM:306955 |
| Aicardi-Goutières Syndrome |
|
Ventriculomegaly, Porencephalic cyst, Arrhinencephaly, Acrocyanosis, Cerebral calcification, Mult... |
ORPHA:51 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Pulmonary artery hypoplasia |
ORPHA:2326 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Purpura, Erythema, Urticaria |
ORPHA:343 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Acrocyanosis, Pleural effusion, Restrictive ventilatory defect, ... |
ORPHA:2905 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Progressive ventriculomegaly, Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dil... |
ORPHA:500150 |
| Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
| Pitt-Hopkins Syndrome |
|
Small cerebral cortex, Aplasia/Hypoplasia of the corpus callosum, Acrocyanosis, Abnormal pattern ... |
ORPHA:2896 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Tethered cord, Microcephaly, Colpocephaly |
OMIM:620083 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of the frontal lobes, Death in infancy, Hydrocephalus, Abnormal lung lobation, Diffuse... |
OMIM:270400 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Pulmonary artery hypoplasia, Pulmonary artery atresia, Total anomalous pulmonary venous... |
OMIM:616749 |
| Adrenomyeloneuropathy |
|
Abnormal spinal cord morphology, Cerebral dysmyelination, Dorsal column degeneration, Atrophy of ... |
ORPHA:139399 |
| Dermatomyositis |
|
Respiratory insufficiency, Cutaneous photosensitivity, Abnormal pulmonary interstitial morphology... |
ORPHA:221 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary edema, Abnorma... |
ORPHA:3384 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Obstructive sleep apnea |
OMIM:619426 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Hypoventilation, Asthma, Cardiorespiratory arrest, Recurrent upper respiratory tract in... |
ORPHA:293987 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Acrocyanosis, Decreased sensitivity to hypoxemia |
OMIM:223900 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal periventricular white matter morphology, Abnormal spinal cord morphology, Myelopathy |
ORPHA:139396 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
| Amoebiasis Due To Free-Living Amoebae |
|
Encephalomalacia, Cerebral edema, Respiratory tract infection, Abnormal spinal cord morphology, A... |
ORPHA:68 |
| Zttk Syndrome |
|
Ventriculomegaly, Periventricular leukomalacia, Unilateral lung agenesis, Abnormal cerebral white... |
OMIM:617140 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation, Anterior pituitary hypoplasia |
OMIM:619534 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
| Aortic Arch Interruption |
|
Cyanosis, Aortopulmonary window, Exertional dyspnea, Respiratory distress, Tachypnea |
ORPHA:2299 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Pulmonary arterial hypertension, Cardiac total anomalous pulmonary venous connection, E... |
ORPHA:99125 |
| Atrioventricular septal defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
| 6Q Terminal Deletion Syndrome |
|
Polymicrogyria, Abnormal cerebral white matter morphology, Abnormal cerebral cortex morphology, H... |
ORPHA:75857 |
| Familial Dysautonomia |
|
Abnormal pleura morphology, Recurrent respiratory infections, Acrocyanosis |
ORPHA:1764 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Colpocephaly |
ORPHA:477993 |
| Eisenmenger Syndrome |
|
Cyanosis, Pulmonary arterial hypertension, Aortopulmonary window, Exertional dyspnea, Hypoxemia, ... |
ORPHA:97214 |
| Postinfectious Vasculitis |
|
Ischemic stroke, Palpable purpura, Acrocyanosis, Vasculitis in the skin, Cutis marmorata, Recurre... |
ORPHA:48435 |
| Genitopatellar Syndrome |
|
Patellar aplasia, Thin corpus callosum, Pulmonary hypoplasia, Microcephaly, Pachygyria, Agenesis ... |
OMIM:606170 |
| Superficial Siderosis |
|
Enlarged sylvian cistern, Abnormal spinal cord morphology, Dysgyria, Abnormal corpus callosum mor... |
ORPHA:247245 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Aspiration, Asthma, Abnormal lateral ventricle morphology, Cerv... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Aspiration, Asthma, Abnormal lateral ventricle morphology, Cerv... |
ORPHA:353277 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of corpus callosum, Happy demeanor, Lateral ventricle dilatation |
ORPHA:261537 |
| Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Prominent superficial blood vessel... |
ORPHA:740 |
| Limb Body Wall Complex |
|
Encephalocele, Myelomeningocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... |
ORPHA:2369 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thick corpus callosum, Dysplastic corpus callosum |
OMIM:300967 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Obstructive sleep apnea |
ORPHA:466791 |
| Primary Sjögren Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Abnormal spinal cord morphology, Purpura,... |
ORPHA:289390 |
| Tetrasomy 9P |
|
Pulmonary arterial hypertension, Jaundice, Hydrocephalus, Abnormal spinal cord morphology, Pulmon... |
ORPHA:3310 |
| Witteveen-Kolk Syndrome |
|
Bilateral polymicrogyria, Ventriculomegaly, Microcephaly, Cortical dysplasia, Hypoplasia of the c... |
OMIM:613406 |
| Generalized Arterial Calcification Of Infancy |
|
Encephalomalacia, Cyanosis, Pulmonary arterial hypertension, Cerebral calcification, Respiratory ... |
ORPHA:51608 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Pulmonary artery atresia |
OMIM:212093 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis, Microcephaly, Ventriculomegaly |
OMIM:303600 |
| Classical Ehlers-Danlos Syndrome |
|
Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearance, Poo... |
ORPHA:287 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:216694 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Acrocyanosis, Umbilical hernia |
ORPHA:285 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
