| Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Enlarged sylvian cistern, Perisylvian polymicrogyria |
OMIM:615752 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615938 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Ventriculomegaly, Subcorti... |
OMIM:607432 |
| Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymi... |
OMIM:604213 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Ventriculomegaly, Subcortical band hetero... |
OMIM:600348 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:615763 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Ventricular septal de... |
OMIM:231060 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220200 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Enlarged sylvian cistern, Agyria, Ventriculomegaly, Pachygyria |
ORPHA:1084 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Simplified gyral pattern, Abnormal cerebellum morphology, Ventriculomegaly |
ORPHA:329228 |
| Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Ven... |
OMIM:611603 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615937 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia, Lissenceph... |
OMIM:618677 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormality of orbicularis oris muscle, Cleft upper lip, Diastema, Fusion of gums, Irregular dent... |
ORPHA:401942 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Ventriculomegaly, Cerebellar atrophy,... |
ORPHA:1083 |
| Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly, Polymicrogyria |
ORPHA:171703 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:617800 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Periventricular nodular heterotopia, Cerebellar hypoplasia, Optic atrophy, Spa... |
OMIM:618572 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Polymicrogyria |
OMIM:612691 |
| Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613122 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Polymicrogyria, Lissencephaly, Ventriculomegaly, Cerebellar atrophy, Pachygyria, Hypoplasia of th... |
OMIM:618730 |
| Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
| Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Peripheral axonal neuropathy, Gait ataxia, Cerebellar atrophy |
OMIM:615957 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Cerebellar hypoplasia, Spastic tetraplegia, Pachygyria |
OMIM:618174 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... |
OMIM:115197 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Lissencephaly 4 |
|
Cerebellar hypoplasia, Lissencephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus ... |
OMIM:614019 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Hypoplasia of the pons, Polymicrogyria, Abno... |
ORPHA:300573 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia |
ORPHA:2703 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... |
OMIM:619424 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Abnormal cerebellum morphology, Increased CSF lactate, Ventriculomegaly, Simplified gyral pattern... |
OMIM:618397 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, O... |
ORPHA:352682 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... |
OMIM:600884 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
| Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Pierre-Robin sequence |
OMIM:261800 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... |
OMIM:619742 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Ventricular ... |
ORPHA:2476 |
| Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor, Olivopontocerebellar atrophy |
OMIM:258300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Jaundice, Left ventricular hypertroph... |
ORPHA:57777 |
| Gonadal dysgenesis, xy type, with associated anomalies |
|
Cleft upper lip, Oral cleft, Acromelia, Abnormal heart morphology |
OMIM:233430 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
| Mmep Syndrome |
|
Ventricular septal defect, Mandibular prognathia, Median cleft lip, Oral cleft |
ORPHA:3434 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Nephrosialidosis |
|
Ascites, Pericardial effusion, Bone-marrow foam cells |
OMIM:256150 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
| Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Micrognathia, Coarctation of aorta, Cam... |
OMIM:616145 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617133 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Hypertonia, Ataxia, Olivopontocerebellar atrophy, Optic atrophy, Ventriculomegaly |
ORPHA:2732 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Cerebellar atrophy |
ORPHA:423296 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Increased CSF lactate, Cerebellar vermis atrophy, Babinski sign, Dilated fou... |
OMIM:619054 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, ... |
OMIM:611615 |
| Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Malar flattening, Tetralogy of Fallot, Unilateral cleft lip, Ma... |
ORPHA:1919 |
| Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Ventriculomegaly, Cerebellar atrophy |
OMIM:613402 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Hypoplasia of the pons, Type II lissencephaly, Ventriculomegaly, Dandy-Walker malf... |
OMIM:613154 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
| Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Ventriculomegaly |
OMIM:617051 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar ... |
ORPHA:94122 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Death in infancy, Congestive heart failure |
OMIM:212080 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Ventriculomegaly |
OMIM:115210 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Cerebellar hypoplasia, Ventriculomegaly |
OMIM:618383 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... |
ORPHA:75249 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:614322 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar atrophy, Spastic ... |
OMIM:611252 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Micrognathia... |
ORPHA:3304 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
| Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Sensory axonal neuropathy, Gait ataxia, Cerebellar... |
OMIM:617770 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Cerebellar hypoplasia, Polymicrogyria |
OMIM:615771 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
| Diprosopus |
|
Abnormal cardiac septum morphology, Anencephaly, Cleft palate, Non-midline cleft lip |
ORPHA:1681 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... |
ORPHA:1041 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... |
OMIM:618876 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... |
OMIM:619903 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Gray matter heterotopia, Tip-toe gait, Pachygyria, Frequent falls, Difficulty wa... |
ORPHA:370980 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum, Hypoplasia... |
ORPHA:250972 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Ataxia, Cerebellar atrophy |
OMIM:614706 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1568 |
| Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Ventriculomegaly, Simplified gyral pattern, Microlissencephaly, Agenesis o... |
OMIM:617090 |
| Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Pachygyria, Left ventricular hypertrophy, Hypoplasia of the pons, Cerebellar hypop... |
OMIM:613153 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate |
OMIM:236110 |
| Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Atrial septal defect, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Tet... |
OMIM:612561 |
| Developmental And Epileptic Encephalopathy 54 |
|
Ventriculomegaly |
OMIM:617391 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Optic atrophy, Type II lissencephaly, Cerebellar vermis h... |
OMIM:615191 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Moyamoya Disease |
|
Telangiectasia, Ventriculomegaly |
ORPHA:2573 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... |
OMIM:610245 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partial agenesis of ... |
OMIM:304100 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Cerebellar atrop... |
OMIM:607458 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... |
ORPHA:263494 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Gait ataxia, Ventriculomegaly, Cerebellar atrophy, Slurred speech |
OMIM:619323 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Retinopathy, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Myopath... |
OMIM:618234 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic pulmonary v... |
OMIM:618021 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Ataxia, Ventriculomegaly, Cerebellar atrophy, Upper limb spasticity, Lower limb spast... |
OMIM:613925 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Dysmetria, Babinski sign, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar hypoplasia, Hemiparesis, Unilateral polymicrogyria, Lissencephaly, Pachygyria, Agenesi... |
OMIM:610031 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... |
OMIM:616948 |
| Alexander Disease |
|
Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Abnormal dentate nucleus morphology, Increased C... |
OMIM:203450 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia,... |
OMIM:610357 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Gait disturb... |
ORPHA:2572 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... |
ORPHA:63273 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:608716 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Narrow mouth, Arteriovenous malformation, Hypoplasia of the zygomatic bone, Downturned corners of... |
ORPHA:1110 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Type II lissencephaly, Ventriculomegaly, Cerebellar malformation, Occipital enceph... |
ORPHA:324416 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria |
OMIM:614483 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... |
OMIM:608099 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Foot d... |
ORPHA:477817 |
| Autosomal Recessive Amelia |
|
Abnormal cardiac septum morphology, Micrognathia, Acromelia of the lower limbs, Amelia, Oral clef... |
ORPHA:1027 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... |
ORPHA:99104 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Patent ductus art... |
OMIM:618782 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:611726 |
| Pericardial Effusion, Chronic |
|
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Tremor, Ventriculomegaly, Cerebellar atrophy |
OMIM:617862 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pachygyria, Ventriculomegaly |
OMIM:617613 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degene... |
ORPHA:77299 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia, Cerebellar atrophy |
OMIM:616187 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
| Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:611694 |
| Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Thin... |
OMIM:601927 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Patent ... |
OMIM:616028 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal m... |
ORPHA:945 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Joint contracture of th... |
OMIM:179613 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, High palate, Narrow palate, Micrognathia, Long philtrum, Ventricular septal defect, ... |
OMIM:617022 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Neurodegeneration With Brain Iron Accumulation |
|
Rigidity, Chorea, Optic atrophy, Spasticity, Cerebellar atrophy, Abnormality of extrapyramidal mo... |
ORPHA:385 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Tra... |
ORPHA:99103 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Ataxia, Cerebellar vermis hypoplasia, Impaired pai... |
ORPHA:1532 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Gait disturbance, Tremor, Progressive spasticity... |
OMIM:210000 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:615705 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... |
OMIM:300580 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly |
OMIM:614870 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... |
OMIM:224050 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... |
OMIM:609200 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Micrognathia, Anencephaly, Micromelia, Tetralogy ... |
ORPHA:1908 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hypopl... |
OMIM:220210 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:1261 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dyspl... |
OMIM:616531 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Holoprosencephaly, Amelia, Anterior encephalocele, Ventricular sept... |
OMIM:601357 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Abn... |
OMIM:615362 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:608029 |
| Glycogen Storage Disease 0, Muscle |
|
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... |
OMIM:611556 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Peripheral axonal neuropathy, Optic disc pa... |
OMIM:619389 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Tremor, Gait ataxia, ... |
OMIM:618387 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... |
OMIM:616827 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Cerebellar hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:616486 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... |
OMIM:618052 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Spasti... |
OMIM:619302 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Gait ataxia, Spas... |
ORPHA:1170 |
| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia |
ORPHA:99966 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pulmonary arterial... |
ORPHA:2414 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... |
OMIM:615960 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hypertonia, Gray matter heterotopia, Hemiparesis, Polymicrogyria, Lissencephaly, Spastic tetrapar... |
OMIM:604317 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Progressive spastic paraparesis, Cerebellar atrophy,... |
ORPHA:496756 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Fourth heart sound, Congestive heart failure, Right axis deviation, Sinus tachycardia, EMG: myopa... |
OMIM:255160 |
| Joubert Syndrome 30 |
|
Superior cerebellar dysplasia, Gray matter heterotopia, Ventriculomegaly, Cerebellar atrophy, Mol... |
OMIM:617622 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Thomas Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate |
ORPHA:3316 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Ataxia, Dysmetria, Limb ataxia, Peripheral axonal neuropathy, Gait ataxia, Spasticity, Cerebellar... |
OMIM:610743 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... |
OMIM:611705 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Short ribs, Micrognathia, Micromelia, Median cleft lip, Microglossia... |
OMIM:241800 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
| Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Myoclonus, Ataxia, Cerebellar atrophy |
OMIM:600143 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus callosum, Optic atrophy... |
ORPHA:1528 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogy... |
OMIM:615181 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Fried Syndrome |
|
Gait disturbance, Spastic diplegia, Hydrocephalus, Abnormal cerebellum morphology |
ORPHA:85335 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Myoclonus, Dilated fourth ventricle, Cho... |
ORPHA:251347 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Ventricular ... |
ORPHA:261120 |
| Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpu... |
OMIM:300067 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:500166 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... |
ORPHA:2041 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:3207 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial palsy, Myopathy |
OMIM:602541 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:300864 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Dilated cardiomyopathy, Simplified gyral pattern, Hypertrophic cardiomyopath... |
OMIM:618815 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... |
OMIM:270500 |
| Gordon Holmes Syndrome |
|
Ataxia, Cerebellar atrophy |
OMIM:212840 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2512 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal cerebellum morphology, Ataxia, Action tremor, Poor fine motor coordination, Bradykinesia... |
ORPHA:98762 |
| Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
ORPHA:423275 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Spinocerebellar Ataxia 49 |
|
Ataxia, Loss of ambulation, Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropat... |
OMIM:619806 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Impaired vibratory sensation, Babinski sign, Peripheral axonal neuropathy, Optic atr... |
OMIM:619686 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Micrognathia, Short philtrum, Ventricular septal defect, Widely-spaced maxi... |
OMIM:608227 |
| X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... |
ORPHA:1175 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... |
OMIM:253300 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Umbilical hernia |
ORPHA:1918 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Stroke, Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricu... |
OMIM:619402 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
OMIM:616053 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Inferior cerebellar ver... |
ORPHA:370022 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
| Polymicrogyria, Bilateral Frontoparietal |
|
Perisylvian polymicrogyria, Broad-based gait, Hypertonia, Dysmetria, Ankle clonus, Babinski sign,... |
OMIM:606854 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... |
ORPHA:363705 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Peripheral axonal neuropathy, Optic atrophy, Spasticity, Cerebellar atrophy, Spastic tetr... |
OMIM:617207 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Chorea, Optic atrophy,... |
OMIM:164400 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Paroxysmal atrial tachycardia, Retinal dystrophy, Ventricular septa... |
ORPHA:49827 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619048 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, ... |
ORPHA:272 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Abnormal cerebellum morphology, Leg muscle stiffness, Distal lower l... |
ORPHA:320360 |
| Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Limb hypertonia, Polymicrogyria, Partial agenesis of the corpus call... |
OMIM:616212 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Cleft palate, Ventricular septal defect, Hydranencephaly, Truncus... |
OMIM:601355 |
| Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Cerebellar hypoplasia, Polymicrogyria, Gait disturbance, Spasticity, Pachygyria |
OMIM:616654 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypoplastic spl... |
OMIM:619313 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
| Maternally-Inherited Diabetes And Deafness |
|
Retinopathy, Arrhythmia, Abnormal chorioretinal morphology, Macular dystrophy, Hypertrophic cardi... |
ORPHA:225 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Action tremor, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... |
ORPHA:314978 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... |
ORPHA:615 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosi... |
OMIM:616230 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular se... |
OMIM:249670 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention tremor, Cerebellar hypopl... |
OMIM:616127 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Abnormal autonomic n... |
ORPHA:85451 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... |
OMIM:617225 |
| Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Peho-Like Syndrome |
|
Polymicrogyria, Lissencephaly, Ventriculomegaly, Cerebellar atrophy, Pachygyria |
OMIM:617507 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Dysmetria, Spasticity, Cerebellar atrophy |
OMIM:617916 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... |
OMIM:183090 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... |
OMIM:616898 |
| Bowen-Conradi Syndrome |
|
Ventriculomegaly |
ORPHA:1270 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Inability to walk, Cerebellar atrophy |
OMIM:617915 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly |
OMIM:616540 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Facial palsy, Dilated cardiomyopathy |
OMIM:615959 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus |
OMIM:125370 |
| Miller-Dieker syndrome (MDS) |
|
Lissencephaly, Abnormal heart morphology |
DECIPHER:21 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Mitral regurgitation |
ORPHA:83473 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Tooth agenesis, Micrognathia, Mesomelia, Abnormal palate morpho... |
ORPHA:1277 |
| Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxi... |
ORPHA:101112 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia |
OMIM:615217 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Partial absence of cerebellar ver... |
OMIM:220220 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons, Ventriculomegaly |
OMIM:613151 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Ascites, Pericardial effusion, Edema |
OMIM:608776 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Cerebellar atrophy |
OMIM:619303 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Cerebellar gliosis,... |
ORPHA:79243 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... |
ORPHA:284324 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart ... |
OMIM:602390 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Tetralogy of Fallot, Camptodactyly, Hypoplast... |
OMIM:136760 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Camptodactyly o... |
ORPHA:1388 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
| Lissencephaly 8 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Type II lissencephaly, Agyria... |
OMIM:617255 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Ataxia, Periventricular heterotopia, Rigidity, Cerebellar hypoplasia, Optic atroph... |
OMIM:618476 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified... |
OMIM:615219 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Simplified gyral pattern, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Microgn... |
OMIM:608572 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
| Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Peripheral axonal neuropathy, Distal sensory impairment, Cerebellar atrophy, Steppage gait |
OMIM:607250 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Gray matter heterotopia, Anencephaly, Cerebellar hypoplasia, Optic nerve dysplasia... |
OMIM:615287 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor, Cerebellar atrophy |
OMIM:618090 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Broad-based gait, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Dysmetria, Oculomoto... |
ORPHA:363429 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... |
ORPHA:512260 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
| Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Atrial septal defect, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Tetralogy of Fallot, ... |
OMIM:601322 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hydrocephalus, Optic atrophy, Tremor, Spastic tetraparesis, S... |
OMIM:619470 |
| Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellar vermis, Abnormal optic disc morpholo... |
ORPHA:65 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Myoclonus, Optic atrophy, Ventriculomegaly, Spasticity, Dandy-Walker malformation |
OMIM:617281 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Abnormal cerebellum morphology, Gray matter heterotopia, Optic nerve hypoplasia, A... |
ORPHA:370959 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... |
ORPHA:101110 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Choreoathetosis, Abnormality of extrapyramidal motor function, Cerebellar atrophy |
OMIM:301020 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Increased CSF lactate, Ventricular sep... |
OMIM:614947 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Lissencephaly, Simplified gyral pattern |
ORPHA:284417 |
| Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Abnormal cerebellum morphology, Abnormal pyramidal sign, Hypoplasia of the pons, ... |
ORPHA:101070 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Congenital diaphragmatic hernia, Cleft palate, Abnormality of lower lip, Microgna... |
ORPHA:1166 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... |
OMIM:301075 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Camptodactyly, Patent ductus... |
OMIM:608104 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tre... |
ORPHA:99947 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... |
OMIM:614954 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... |
OMIM:613313 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Ataxia, Peripheral axonal neuropathy, Optic atrophy, Difficulty walking, Cerebellar atrophy |
OMIM:619425 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
| Null Syndrome |
|
Abnormal cerebellum morphology, Ataxia, Inability to walk, Decreased nerve conduction velocity, P... |
ORPHA:280234 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callo... |
OMIM:225790 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnios, Cardiomyopathy, Ven... |
ORPHA:292 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Parkinsonism, Head t... |
OMIM:604326 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Orofacial Cleft 5 |
|
