| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus, Cerebellar agenesis |
OMIM:307010 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Perisylvian polymicrogyria, Enlarged sylvian cistern |
OMIM:615752 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus |
OMIM:615938 |
| Lissencephaly 1 |
|
Hypoplasia of the brainstem, Pachygyria, Gray matter heterotopia, Ventriculomegaly, Abnormal cere... |
OMIM:607432 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Abnormal cerebellum morpho... |
ORPHA:329228 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dyspla... |
OMIM:615763 |
| Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplas... |
OMIM:604213 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... |
OMIM:615937 |
| Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Subcortical band hetero... |
OMIM:600348 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Lissencephaly 3 |
|
Hypoplasia of the brainstem, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callos... |
OMIM:611603 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Cleft upper lip, Cle... |
OMIM:231060 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculo... |
OMIM:618677 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility |
OMIM:607482 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... |
ORPHA:300573 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... |
OMIM:618730 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... |
OMIM:220200 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Gray matter heterotopia, Enlarged sylvian cistern, Ventriculomegaly, Agyria |
ORPHA:1084 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern |
OMIM:617800 |
| Porencephaly |
|
Ventriculomegaly, Porencephalic cyst |
ORPHA:2940 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Ataxia, ... |
OMIM:618174 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Abnor... |
ORPHA:401942 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Spastic paraplegia, Inability to walk, Cerebellar hypoplasia, Periventricular nodular heterotopia... |
OMIM:618572 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... |
ORPHA:171703 |
| Polyrrhinia |
|
Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortica... |
OMIM:618709 |
| Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly, Cerebral atrophy |
OMIM:612900 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Difficulty walking, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower ... |
ORPHA:171622 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy |
OMIM:615268 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Simplified gyral... |
OMIM:613402 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... |
OMIM:601493 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy |
OMIM:615957 |
| Spinocerebellar Ataxia Type 41 |
|
Gait ataxia, Cerebellar vermis atrophy |
ORPHA:458798 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse white matter abnormalities, Diffuse swelling of cerebral white matter, Megalencephaly, Ce... |
OMIM:613925 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Polymicrogyria |
OMIM:612691 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Pachygyria, Increased CSF lactate, Ventriculomegaly, Abnormal cerebellum morphology, Simplified g... |
OMIM:618397 |
| Mental Retardation, Autosomal Recessive 53 |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Ataxia |
OMIM:616917 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hypoplasia of the brainstem, Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral wh... |
ORPHA:352682 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait |
OMIM:605388 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Cardiomyopathy, Dilated, 1R |
|
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... |
OMIM:613424 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:617769 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ventriculomegaly, Hypertonia, Ataxia, Cerebral cortical atrophy, Olivopontocerebellar atrophy, Op... |
ORPHA:2732 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Ankl... |
OMIM:611252 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar hypoplasia, Ataxia, Polymicrogyria, Cortical dysplasia, Microcephaly |
OMIM:615771 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... |
OMIM:617912 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Cerebellar atrophy, Incoordination, Slurred speech |
ORPHA:98766 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Microcephaly, Ventriculomegaly, Cerebral atrophy |
OMIM:617051 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus, Hypertension |
OMIM:166990 |
| Left Ventricular Noncompaction 8 |
|
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... |
OMIM:615373 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... |
ORPHA:101010 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Syncope |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Syncope |
OMIM:613697 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... |
OMIM:615411 |
| Bilateral Striopallidodentate Calcinosis |
|
Microcephaly, Ventriculomegaly, Cerebral calcification, Abnormality of neuronal migration |
ORPHA:1980 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Small cerebral cortex... |
OMIM:608716 |
| Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... |
OMIM:605362 |
| Alexander Disease |
|
Increased CSF protein, Hydrocephalus |
OMIM:203450 |
| Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles |
ORPHA:101071 |
| Lissencephaly 5 |
|
Spastic paraplegia, Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasi... |
OMIM:615191 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus |
OMIM:614830 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:616410 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... |
OMIM:604286 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia, Olivopontocerebellar atrophy |
OMIM:258300 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... |
OMIM:612158 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
ORPHA:211017 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate, Micrognathia |
OMIM:261800 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Ventriculomegaly, Normal pressure hydrocephalus |
OMIM:611808 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Increased CSF lactate, Ataxia, Dilated fourth ventricle, Sensory axonal neuropathy, Torticollis, ... |
OMIM:619054 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... |
ORPHA:2703 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles |
ORPHA:363654 |
| Gonadal Dysgenesis, Xy Type, With Associated Anomalies |
|
Oral cleft, Acromelia, Cleft upper lip, Abnormal heart morphology |
OMIM:233430 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Microcephaly, Optic atrophy,... |
OMIM:614322 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... |
OMIM:617018 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... |
OMIM:604317 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Camptodactyly, Umbilical hernia, Dextrocardia, C... |
OMIM:616145 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure |
ORPHA:217622 |
| Mmep Syndrome |
|
Oral cleft, Mandibular prognathia, Median cleft lip, Ventricular septal defect |
ORPHA:3434 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... |
OMIM:600884 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... |
OMIM:615412 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Microcephaly, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:618383 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity |
ORPHA:217012 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Aplasia/Hypoplasia of the radius, Anencephaly, Non-midli... |
ORPHA:2476 |
| Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis |
|
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:616531 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617133 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:613172 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Cerebellar hypoplasia, Ataxia |
OMIM:213000 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Unilatera... |
ORPHA:1919 |
| Cardiomyopathy, Dilated, 1Kk |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... |
OMIM:615248 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... |
OMIM:181350 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function |
OMIM:609909 |
| Spinocerebellar Ataxia 31 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:117210 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia, Cerebellar cyst, Difficulty walking, Abnormal cerebral white... |
ORPHA:370980 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of ... |
OMIM:613154 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles, Aplasia/Hypoplasia of... |
OMIM:300864 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls |
OMIM:615945 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcep... |
OMIM:611726 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Hemiparesis, Unilateral pol... |
OMIM:610031 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Cardiomyopathy, Dilated, 1A |
|
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... |
OMIM:115200 |
| Cardiomyopathy, Dilated, 1X |
|
Dilated cardiomyopathy |
OMIM:611615 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pericardial effusion, Syncope, Left bundle branch block, Atrioventricula... |
OMIM:115197 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Ventriculomegaly |
OMIM:115210 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign |
OMIM:618418 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1568 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Mental Retardation, Autosomal Dominant 48 |
|
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... |
OMIM:617751 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypo... |
OMIM:616486 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, C... |
OMIM:617862 |
| Heart-Hand Syndrome, Slovenian Type |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... |
ORPHA:168796 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Tremor, Apraxia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia,... |
OMIM:615889 |
| Lissencephaly 4 |
|
Hypertonia, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus cal... |
OMIM:614019 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Cerebellar at... |
OMIM:616948 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Cardiomyopathy, Dilated, 1D |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... |
OMIM:601494 |
| Spinocerebellar Ataxia 46 |
|
Positive Romberg sign, Gait ataxia, Limb ataxia, Sensory axonal neuropathy, Cerebellar atrophy, D... |
OMIM:617770 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Broad-based gait, Nonprogre... |
ORPHA:94122 |
| Developmental And Epileptic Encephalopathy 54 |
|
Microcephaly, Ventriculomegaly |
OMIM:617391 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:613255 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
| Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy |
OMIM:226000 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Syncope, Atrial fibrillation, Abnormal left ventricular function, Tr... |
ORPHA:75249 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... |
ORPHA:99106 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Myopathy, Distal, 1 |
|
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... |
OMIM:160500 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, M... |
OMIM:617090 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... |
ORPHA:98769 |
| Brain Small Vessel Disease 2 |
|
Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Subcortical heterotopia, Polymicro... |
OMIM:614483 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Cerebellar hypoplasia, Aganglionic megacolon, Spasticity, Inferior vermis hypoplasia, Microcephal... |
OMIM:304100 |
| Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy |
OMIM:302045 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly... |
ORPHA:3207 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy |
OMIM:612877 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy |
OMIM:613252 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy |
OMIM:611879 |
| Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy |
OMIM:613122 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmonic stenosis, Doub... |
ORPHA:3304 |
| Pineocytoma |
|
Increased CSF protein, Hydrocephalus |
ORPHA:251912 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Progressive gait ataxia, Difficulty walking, Spasticity, Progressive cerebellar ataxi... |
ORPHA:284332 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... |
ORPHA:34515 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Giant somatosensory evoked potentials, ... |
OMIM:618876 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Ventriculomegaly, Polymicrogyria |
OMIM:300982 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Spasticity, Polymicrogyria, Cerebellar atrop... |
OMIM:618973 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy,... |
ORPHA:77299 |
| Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Reduced ejection fraction, Pulmonary arterial hypertension |
OMIM:618189 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... |
OMIM:614831 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617967 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, Abnormal cerebral white matter... |
OMIM:613153 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... |
OMIM:618773 |
| Dystonia With Cerebellar Atrophy |
|
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis |
OMIM:611694 |
| Moyamoya Disease |
|
Ventriculomegaly, Telangiectasia |
ORPHA:2573 |
| Lymphatic Malformation 7 |
|
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... |
OMIM:617300 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Cerebral atrophy, Babinski sign, Gait ataxia |
OMIM:616192 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Optic atrophy, Ataxia |
OMIM:614706 |
| Kaposi Sarcoma, Susceptibility To |
|
Hypermelanotic macule, Edema |
OMIM:148000 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Iron accumulation in sub... |
ORPHA:496756 |
| Diprosopus |
|
Abnormal cardiac septum morphology, Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
| Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Congestive heart failure, Myopathy, Retinopathy, ... |
OMIM:618234 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Leukoen... |
OMIM:618387 |
| Cog7-Cdg |
|
Hypertrophic cardiomyopathy |
ORPHA:79333 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... |
OMIM:615362 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... |
OMIM:617205 |
| Sub-Cortical Nodular Heterotopia |
|
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... |
ORPHA:101029 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft upper lip, Cleft palate |
OMIM:236110 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... |
OMIM:610245 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy |
OMIM:115195 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy |
OMIM:115196 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... |
OMIM:607458 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy |
OMIM:613251 |
| Left Ventricular Noncompaction 1 |
|
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... |
OMIM:604169 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:612561 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Cerebral atrophy, Myoclonus, Ataxia |
OMIM:600143 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Agenesis o... |
ORPHA:250972 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Gait ataxia, Ventriculomegaly, Slurred speech, Cerebellar atrophy, Optic atrophy |
OMIM:619323 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... |
ORPHA:2185 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... |
ORPHA:1457 |
| Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Optic atrophy... |
ORPHA:385 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral calcification, Cerebral palsy |
ORPHA:99966 |
| Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Upper limb spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy, Ce... |
OMIM:618468 |
| Nescav Syndrome |
|
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Peripheral ax... |
OMIM:614255 |
| Camos Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Ataxia, Micro... |
ORPHA:83472 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:612098 |
| Hydrops Fetalis |
|
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... |
ORPHA:1041 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Ataxia, Ankle clonus, Cerebellar atrophy, Lower limb spasticity, Peripheral a... |
OMIM:610357 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Microcephaly, Ventriculomegaly, Pachygyria |
OMIM:617613 |
| Spinocerebellar Ataxia 29 |
|
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... |
OMIM:117360 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... |
OMIM:618021 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... |
ORPHA:63273 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... |
OMIM:613908 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... |
ORPHA:500166 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar ... |
ORPHA:468661 |
| Poretti-Boltshauser Syndrome |
|
Abnormal periventricular white matter morphology, Gray matter heterotopia, Cerebellar cyst, Cereb... |
OMIM:615960 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... |
ORPHA:99103 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemipa... |
ORPHA:2572 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria |
OMIM:616291 |
| Gordon Holmes Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia |
OMIM:212840 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Microcephaly, Ventriculomegaly, Cerebral calcification, Decreased response to growth hormone stim... |
ORPHA:1261 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... |
ORPHA:1170 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
| Mental Retardation, Autosomal Dominant 13 |
|
Pachygyria, Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar hypoplasia, Abnormali... |
OMIM:614563 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Involuntary movements, Micr... |
OMIM:618325 |
| Spinocerebellar Ataxia Type 25 |
|
Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Decreased number of large... |
ORPHA:101111 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Loss of ability to walk, Ataxia, Cerebellar atrophy, Unsteady gait, Dysmetria |
OMIM:617917 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Hypoplasia of the corpus callosum, Dilation of lateral ventricles |
OMIM:616816 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... |
ORPHA:1209 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... |
OMIM:608099 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... |
OMIM:612937 |
| Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated cardiomyopathy, Calf ... |
ORPHA:263494 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... |
ORPHA:99104 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Mandib... |
ORPHA:1110 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysdiadochokinesis, Gait ataxia, Pachygyria, Truncal ataxia, Intention tremor, Cerebellar hypopla... |
OMIM:224050 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... |
OMIM:615768 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Loss of ability to walk, Ataxia, Cerebellar ... |
OMIM:617916 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... |
OMIM:615181 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... |
OMIM:618276 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Type II lissencephaly |
OMIM:615041 |
| Fried Syndrome |
|
Gait disturbance, Spastic diplegia, Abnormal cerebellum morphology, Cerebral calcification, Hydro... |
ORPHA:85335 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... |
OMIM:616028 |
| Autosomal Recessive Amelia |
|
Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft lip, Oral cleft... |
ORPHA:1027 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Diffuse cerebellar atrophy, Trunca... |
ORPHA:363710 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Long philtrum, Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart ... |
ORPHA:477817 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... |
OMIM:601419 |
| Pericardial Effusion, Chronic |
|
Pericardial effusion, Retinal arteriolar tortuosity, Constrictive pericarditis |
OMIM:260900 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... |
OMIM:210000 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Perimembranous ventricular septal... |
OMIM:618782 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Abnormality of neuronal mi... |
ORPHA:945 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Thick lower lip ver... |
OMIM:179613 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... |
OMIM:613728 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Poor fine motor coordination... |
ORPHA:98762 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... |
OMIM:255160 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Impaired pain sensation, Hy... |
ORPHA:1532 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... |
OMIM:618654 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:615705 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Ventriculomegaly, Cerebellar malformation, Hydrocephalus |
ORPHA:324416 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... |
OMIM:609200 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... |
OMIM:253300 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... |
OMIM:618736 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... |
OMIM:220210 |
| Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:2466 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Muscular dystrophy,... |
ORPHA:300751 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly |
OMIM:614870 |
| Lethal Congenital Contracture Syndrome 10 |
|
Long philtrum, Narrow palate, Ventricular septal defect, Torticollis, Cardiomegaly, Overriding ao... |
OMIM:617022 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Dil... |
OMIM:300580 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Ventriculomegaly, Hypoplasia of the frontal lobes, Microceph... |
ORPHA:2512 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ventriculomegaly, Ataxi... |
ORPHA:248111 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly, Optic disc pallor |
OMIM:619170 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Shor... |
OMIM:615297 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Abnormal periventricular white mat... |
OMIM:617225 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar atroph... |
OMIM:618090 |
| Dystonia 23 |
|
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Cerebel... |
OMIM:614860 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity |
OMIM:608029 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:300718 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral hypoplasia, Microcephaly |
OMIM:617977 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebral white matter atrophy, Cerebellar... |
ORPHA:98756 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Muscular dystrophy, Reduced systolic function, Triangular tongue, Skeletal muscle a... |
OMIM:616827 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spas... |
OMIM:617207 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus ca... |
ORPHA:255182 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thin upper lip vermili... |
OMIM:601927 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Optic... |
ORPHA:1528 |
| Spinocerebellar Ataxia 25 |
|
Abolished vibration sense, Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebe... |
OMIM:608703 |
| Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Gait disturbance, Cerebral atrophy, Hyperkinetic movements, Cerebellar atrophy, Myoclon... |
OMIM:616981 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy |
OMIM:141500 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... |
ORPHA:206559 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Cerebral cortical hemiatrophy, Dilation of lateral ventricles |
ORPHA:306669 |
| Sonoda Syndrome |
|
Narrow mouth, Ventricular septal defect |
OMIM:270460 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Cerebellar cyst, Increased CS... |
ORPHA:79243 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... |
ORPHA:251347 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
| Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Parkinsonis... |
OMIM:162350 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Chorea, Cere... |
OMIM:613811 |
| Bilateral Frontoparietal Polymicrogyria |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnormal pyramidal sign, Ce... |
ORPHA:101070 |
| Polymicrogyria, Bilateral Frontoparietal |
|
Truncal ataxia, Ventriculomegaly, Hypertonia, Cerebellar hypoplasia, Ankle clonus, Frontal polymi... |
OMIM:606854 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia, Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Wal... |
OMIM:617622 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Sp... |
OMIM:610743 |
| Adult-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... |
ORPHA:171442 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Hydrocephalus, Hypertonia, Cerebellar hypoplasia, Spastic tetraplegia, Simplified gyral... |
OMIM:619302 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... |
ORPHA:1330 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... |
OMIM:616898 |
| 14Q11.2 Microdeletion Syndrome |
|
Long philtrum, Narrow mouth, Ventricular septal defect, High palate, Everted lower lip vermilion,... |
ORPHA:261120 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Cerebral cortical atrophy, Cerebe... |
OMIM:604326 |
| Xylosidase Deficiency |
|
Microcephaly, Ventriculomegaly |
OMIM:278900 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Ventriculomegaly, Patent ductus arteriosus, Pulmonic stenosis, Double ... |
OMIM:618164 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
| Salih Myopathy |
|
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... |
OMIM:611705 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615184 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Myopathy |
OMIM:602541 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Lissencephaly 8 |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria,... |
OMIM:617255 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Dilation of lateral ventricles, Subependymal cysts, Multifocal cerebral whi... |
OMIM:600721 |
| Peho-Like Syndrome |
|
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Cerebellar atrop... |
OMIM:617507 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebral atrophy, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Distal sensory impair... |
OMIM:607250 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... |
OMIM:608097 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial... |
ORPHA:85179 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Dilated cardiomyopathy, Agenes... |
OMIM:300952 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Gray matter heterotopia, Ataxia, Agyria, Agenesis of corpus callosum, Lissencephaly, ... |
OMIM:300067 |
| Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Pulmonic stenosis, Congestive heart f... |
ORPHA:2414 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Simplified gyral pattern, Dilated cardiomyopathy, Bradycardia, Hypertrophic ... |
OMIM:618815 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... |
ORPHA:79262 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Mandibular prognathia, Spin... |
ORPHA:1908 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... |
OMIM:616204 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Myoclonus, Microcephaly, Optic atrophy, Hydrocephalus, ... |
OMIM:617281 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly, Bilateral cleft lip... |
OMIM:601357 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Hypomimic face, Ventri... |
OMIM:608572 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... |
ORPHA:3400 |
| Thomas Syndrome |
|
Hypoplastic left heart, Cleft upper lip, Cleft palate |
ORPHA:3316 |
| Lissencephaly 6 With Microcephaly |
|
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Spa... |
OMIM:616212 |
| Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Leukoenceph... |
OMIM:611390 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Short philtrum, Atrial septal defect, Thick lower lip vermilion, Ventricular septal defect, Micro... |
OMIM:608227 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Periventricular he... |
OMIM:618476 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Van Der Woude Syndrome 2 |
|
Cleft palate, Cleft upper lip, Anodontia |
OMIM:606713 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles |
OMIM:602200 |
| Fetal Minoxidil Syndrome |
|
Micrognathia, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Joubert Syndrome 24 |
|
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Dysmetria, Spasticity |
OMIM:616654 |
| Spinocerebellar Ataxia 28 |
|
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... |
OMIM:610246 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Cerebellar cyst, Ventriculomegaly, Cerebellar hypoplasia, Microcephaly, Hypoplasia of the pons |
OMIM:613151 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... |
OMIM:220220 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... |
OMIM:270500 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles |
OMIM:618890 |
| Bowen-Conradi Syndrome |
|
Microcephaly, Ventriculomegaly |
ORPHA:1270 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Cerebellar hypoplasia, Ataxia, Truncal ataxia |
OMIM:617584 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis |
OMIM:125370 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Choreoathetosis, Abnormality of extrapyramidal motor function |
OMIM:301020 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Torticollis, Frequent falls, Spasticity |
OMIM:618369 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea... |
OMIM:617672 |
| Danon Disease |
|
EMG: myopathic abnormalities, Myocardial fibrosis, Myocardial necrosis, Arrhythmia, Wolff-Parkins... |
OMIM:300257 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Inability to walk, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia... |
OMIM:613155 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... |
OMIM:300423 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy |
ORPHA:1909 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... |
ORPHA:423275 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matter hypoplasia... |
ORPHA:284417 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Ventricular septal defect, Tented upper lip vermilion, Cleft palate, Cleft ... |
OMIM:600987 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tong... |
OMIM:618170 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Cerebral cortical atrophy, Progress... |
ORPHA:314603 |
| Maternally-Inherited Diabetes And Deafness |
|
Abnormal chorioretinal morphology, Arrhythmia, Hypertension, Congestive heart failure, Retinopath... |
ORPHA:225 |
| Joubert Syndrome 31 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI |
OMIM:617761 |
| Gne Myopathy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... |
ORPHA:602 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... |
OMIM:605361 |
| X-Linked Progressive Cerebellar Ataxia |
|
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Axonal loss, Progressive ce... |
ORPHA:1175 |
| Spinocerebellar Ataxia 1 |
|
Abnormality of extrapyramidal motor function, Impaired proprioception, Spasticity, Dysdiadochokin... |
OMIM:164400 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Ataxia, Oculomotor apraxia, Dilated fourt... |
ORPHA:370022 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia, Optic atrophy |
OMIM:610951 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Atrial flutter, Congestive heart failure, Cardiomegaly, Contractures of the large joints, Hydroce... |
OMIM:300886 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... |
ORPHA:216694 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... |
OMIM:619048 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Hepatomegaly |
OMIM:615895 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... |
OMIM:616053 |
| Masa Syndrome |
|
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:303350 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy |
OMIM:610768 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlarg... |
OMIM:619313 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arter... |
OMIM:249670 |
| Pallister-Hall-Like Syndrome |
|
Abnormal heart morphology, Short ribs, Microglossia, Cleft palate, Micrognathia, Hydrocephalus, M... |
OMIM:241800 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... |
OMIM:608751 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebellar at... |
OMIM:617633 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Cerebellar atrophy, Peripheral axonal neuropathy, Waddling gait, Babinski sign,... |
OMIM:619090 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Cerebellar atrophy, Lower limb s... |
OMIM:607565 |
| Hypermanganesemia With Dystonia 2 |
|
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atro... |
OMIM:617013 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse, Spasticity, Impaired vibratory sensation, Hypoplasia of the corpus callosu... |
ORPHA:98 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Progressive i... |
ORPHA:521406 |
| Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, C... |
OMIM:610333 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... |
OMIM:618845 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... |
OMIM:611302 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Hydrocephalus, Cardiomyopathy, Hypoplasia of the pons, Gray matter heterot... |
ORPHA:370959 |
| Developmental And Epileptic Encephalopathy 36 |
|
Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal pyramidal sign, Microcep... |
OMIM:300884 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Atrial septal defect, Aglossia, Patent ductus arteriosus, Micrognathia, Malar flatte... |
OMIM:241310 |
| Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Hip contracture, Facial palsy |
OMIM:615959 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Tooth agenesis, Microgna... |
ORPHA:1277 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Leg muscle stiffness, Supraventricular arrhythmia, Abnormal cerebellum morphology, Distal lower l... |
ORPHA:320360 |
| Laing Early-Onset Distal Myopathy |
|
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... |
ORPHA:59135 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Type II lissencephaly, Muscular dystrophy, Flexion contracture, Hypoglyc... |
ORPHA:272 |
| Pettigrew Syndrome |
|
Gait ataxia, Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Choreoat... |
OMIM:304340 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Glutamine Deficiency, Congenital |
|
Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, Bradycardia, Dilation of l... |
OMIM:610015 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Retinal dystrophy... |
ORPHA:49827 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Cerebellar atrophy, Gait ataxia |
OMIM:617915 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly |
OMIM:616540 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... |
OMIM:614980 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Dystonia, Ataxia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy, Secondary microcephaly, Opt... |
OMIM:617954 |
| Cardiomyopathy, Dilated, 1S |
|
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... |
OMIM:613426 |
| Spinocerebellar Ataxia Type 26 |
|
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... |
ORPHA:101112 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia, Hydranenceph... |
OMIM:225790 |
| Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Patent ductus arteriosus, Gray matter heterotopia, Bicuspid ao... |
OMIM:300049 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Ascites |
OMIM:608776 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Truncal ataxia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... |
ORPHA:314978 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... |
OMIM:614065 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Cerebellar hypop... |
OMIM:615287 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Glossoptosis, Oral syne... |
ORPHA:1388 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... |
ORPHA:284324 |
| Miller-Dieker syndrome (MDS) |
|
Lissencephaly, Abnormal heart morphology |
DECIPHER:21 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... |
OMIM:609270 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... |
OMIM:610185 |
| Cach Syndrome |
|
T2 hypointense thalamus, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the... |
ORPHA:135 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
| Megabladder, Congenital |
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Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... |
OMIM:252011 |
| Pontocerebellar Hypoplasia, Type 1A |
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Basal ganglia gliosis, Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Neuron... |
OMIM:607596 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
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Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602087 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
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Microcephaly, Dilation of lateral ventricles |
OMIM:619278 |
| Glycogen Storage Disease 0, Muscle |
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Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... |
OMIM:611556 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Abnormality of the pulmona... |
ORPHA:1166 |
| Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy |
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Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... |
OMIM:220219 |
| Hemimegalencephaly |
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Pachygyria, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral... |
ORPHA:99802 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
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Dysdiadochokinesis, Diffuse cerebellar atrophy, Spastic dysarthria, Progressive gait ataxia, Broa... |
ORPHA:363429 |
| Familial Atrial Myxoma |
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Cardiac myxoma, Cholestasis, Tricuspid regurgitation, Jaundice, Pulmonic valve myxoma, Congestive... |
ORPHA:615 |
| Hemochromatosis, Type 2A |
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