| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Lissencephaly 1 |
|
Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Pachygyria, Agyria, Gray ma... |
OMIM:607432 |
| Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Diaphragmatic Hernia 5, X-Linked |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Band Heterotopia |
|
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... |
OMIM:600348 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus ... |
OMIM:604213 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus, Polymicrogyria |
OMIM:615938 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... |
OMIM:620315 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Cranial nerve paralysis, Partial absence of cerebellar v... |
OMIM:220200 |
| Genitopalatocardiac Syndrome |
|
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Ventriculomegaly, Enlarged sylvian cistern, Pachygyria, Agyria, Gray matter heterotopia |
ORPHA:1084 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Ventriculomegaly, Abnormal cerebellum morphology, Simplified gyral pattern |
ORPHA:329228 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... |
OMIM:607482 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus, Polymicrogyria |
OMIM:615937 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Simplified gyral pattern, Hypoplasia of the brain... |
OMIM:615763 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia, Per... |
OMIM:618677 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... |
OMIM:611880 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Diastema, Cleft upper lip, Abnormal mandible morphology, Abnormality of orbicularis oris muscle, ... |
ORPHA:401942 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Periventricular laminar heterotop... |
OMIM:611603 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Microlissencephaly |
|
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Hypertonia, Pa... |
ORPHA:1083 |
| Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613122 |
| Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Spastic paraplegia, Optic atrophy, Inability to walk, Periventricular nodular heterotopia, Cerebe... |
OMIM:618572 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Simplified gyral pattern |
OMIM:617800 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Polymicrogyria |
OMIM:612691 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Polymicrogyria, Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:171703 |
| Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
| Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Hypoplasia of the brainstem, Pachygyria, Li... |
OMIM:618730 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy |
OMIM:605388 |
| Periventricular Nodular Heterotopia 8 |
|
Cerebellar vermis atrophy, Periventricular nodular heterotopia, Spasticity |
OMIM:618185 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait |
OMIM:616410 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... |
ORPHA:171622 |
| Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus |
ORPHA:2703 |
| Spinocerebellar Ataxia Type 5 |
|
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech |
ORPHA:98766 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... |
ORPHA:101010 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
| Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:613286 |
| Lissencephaly 4 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Lissencephaly, Simplified gyral... |
OMIM:614019 |
| Spinocerebellar Ataxia 45 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:617769 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arte... |
OMIM:313850 |
| Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebellar atrophy, Cerebellar ataxia associated with quadrupe... |
OMIM:615268 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Cerebellar... |
ORPHA:352682 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Polymicrogyria, Abnorma... |
ORPHA:300573 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613252 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Spastic Paraplegia 88, Autosomal Dominant |
|
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the brainstem |
OMIM:620106 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... |
OMIM:606685 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired distal propri... |
OMIM:619742 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f... |
OMIM:115197 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:617018 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... |
OMIM:613172 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... |
OMIM:619424 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Ventriculomegaly, Olivopontocerebellar atrophy, Hypertonia, Ataxia |
ORPHA:2732 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Optic atrophy, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor |
ORPHA:217012 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:617133 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Cirrhotic Cardiomyopathy |
|
Addictive alcohol use, Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elev... |
ORPHA:57777 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... |
OMIM:605362 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Sensory axonal neuropathy, Cerebellar vermis atrophy, Increased CSF lactate, Dilated fourth ventr... |
OMIM:619054 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy |
OMIM:616500 |
| Spinocerebellar Ataxia 31 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:117210 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im... |
OMIM:600884 |
| Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones of the upper limbs, Congenital di... |
ORPHA:2369 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dilated fourth ventricle, Ataxia, Partial age... |
OMIM:615771 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... |
OMIM:608099 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
| Nephrosialidosis |
|
Pericardial effusion, Bone-marrow foam cells, Ascites |
OMIM:256150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... |
OMIM:613154 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:611615 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ventriculomegaly, Simplified gyral pattern, Cerebellar atrophy, Ataxia |
OMIM:613402 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure |
ORPHA:217622 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| Mmep Syndrome |
|
Median cleft upper lip, Orofacial cleft, Mandibular prognathia, Ventricular septal defect |
ORPHA:3434 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... |
ORPHA:94122 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Ankle clonus, Babinski sign, Lower li... |
OMIM:611252 |
| Constricting Bands, Congenital |
|
Tessier cleft, Abnormal rib cage morphology, Cleft upper lip, Encephalocele, Hand polydactyly, Om... |
OMIM:217100 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... |
OMIM:181350 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Cerebellar hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainstem |
OMIM:618266 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ... |
ORPHA:75249 |
| Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:611879 |
| Joubert Syndrome 13 |
|
Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... |
OMIM:604286 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
| Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy |
ORPHA:111 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Inability to walk, Periventricular heterotopia, C... |
OMIM:618273 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Spina bifida... |
ORPHA:2476 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Cerebellar atrophy, Ataxia |
OMIM:614706 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... |
OMIM:614831 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Hydrops Fetalis |
|
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... |
ORPHA:1041 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Micrognathia, Thin upper lip vermilion, Persistent left superior vena cava, ... |
ORPHA:3304 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Ventriculomegaly, Restrictive cardiomyopathy, Sudden cardiac death |
OMIM:115210 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... |
OMIM:618773 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... |
ORPHA:98769 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... |
OMIM:160500 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... |
OMIM:618876 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Cardiac Lipidosis, Familial |
|
Death in infancy, Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ... |
ORPHA:284332 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Malar flattening, Abnor... |
ORPHA:1919 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... |
OMIM:613255 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Slurred speech |
OMIM:619323 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... |
OMIM:613908 |
| Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Ventricular hypertrophy, Short thumb, Cleft upper lip, Retrognathia, Tetralogy of Fa... |
OMIM:612561 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:612877 |
| Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:619501 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... |
OMIM:614322 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ventriculomegaly, Cerebellar atrophy, Lower limb spasticity, Hypertonia, Ataxia, Upper limb spast... |
OMIM:613925 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dyspla... |
OMIM:613153 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... |
ORPHA:276193 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type... |
OMIM:619903 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Sensory axonal neuropathy, Tremor, Dysmetria, Babinski sign, Progressive gait... |
OMIM:607458 |
| Lissencephaly 5 |
|
Cerebellar vermis hypoplasia, Spastic paraplegia, Optic atrophy, Occipital encephalocele, Type II... |
OMIM:615191 |
| Nescav Syndrome |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Appe... |
OMIM:614255 |
| Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropa... |
OMIM:615957 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Hypert... |
OMIM:619301 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... |
OMIM:617967 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1568 |
| Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... |
ORPHA:206546 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ... |
OMIM:616053 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Hemiplegia/hemiparesis, Hydrocephalus, Cranial nerve paralysis, Ataxia |
ORPHA:99966 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Lower limb spasticity, Ataxia, Truncal at... |
OMIM:616948 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal... |
OMIM:610357 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia |
OMIM:617584 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... |
ORPHA:34515 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... |
ORPHA:250972 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Hemiplegia/hemiparesis, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Gait... |
ORPHA:2572 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Atypical scarring of skin, Stillbirth, Abnormal heart morphology, Abnormal hip bone morphology, A... |
ORPHA:294975 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmati... |
ORPHA:2847 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm |
OMIM:601163 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... |
ORPHA:63273 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Abnormal lower lip morphology,... |
ORPHA:1166 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Long philtrum, Abnormal heart morphology, Foot dorsiflexor weakness, Patent fo... |
ORPHA:477817 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Pachygyria, Gait ata... |
OMIM:224050 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... |
OMIM:300718 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Impaired pain sensation, Abnormal cerebellum morphology, Hydrocepha... |
ORPHA:1532 |
| Moyamoya Disease |
|
Telangiectasia, Ventriculomegaly |
ORPHA:2573 |
| Alexander Disease |
|
Increased CSF protein concentration, Spasticity, Dysmetria, Abnormal dentate nucleus morphology, ... |
OMIM:203450 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:611726 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Hypertonia, Partial agenesis o... |
OMIM:619302 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia |
OMIM:611694 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Stroke-like episode, Calf muscle hyp... |
ORPHA:263494 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Optic atrophy, Inability to walk, Cerebellar hypoplasia, Hydrocephalus, Hypertonia, Ataxia, Pachy... |
OMIM:618174 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... |
ORPHA:1110 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Ventriculomegaly, Intracranial hemorrhage, Polymicrogyria |
OMIM:614483 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Pate... |
OMIM:601927 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... |
OMIM:616291 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Head titubation, ... |
OMIM:620208 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Amelia, Ventricular septal defect, Bi... |
OMIM:601357 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Tetraparesis, Polymicrogyria, Agenesis of corpus callosum, Cerebell... |
OMIM:610031 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... |
OMIM:604432 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Cerebellar vermis atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degene... |
ORPHA:77299 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... |
ORPHA:1457 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:615768 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Sensory axonal neuropathy, Limb ataxia, Gait ataxia, Positive Romberg sign, D... |
OMIM:617770 |
| Recombinant Chromosome 8 Syndrome |
|
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... |
OMIM:179613 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Cerebellar hypoplasia, Ventriculomegaly, Spasticity, Ataxia |
OMIM:618383 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... |
OMIM:611705 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas... |
OMIM:619048 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Frontal encepha... |
ORPHA:1528 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Macular hypoplasia, Colpocephaly, Atrial... |
OMIM:615219 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... |
ORPHA:363710 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:615705 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly, Neonatal death |
OMIM:614870 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Ventriculomegaly, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Gray matter heterotopia, ... |
ORPHA:370980 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Myoclonus, Cerebellar atrophy, Loss of ambulation, Ataxia |
OMIM:600143 |
| Nemaline Myopathy 9 |
|
Nemaline bodies, Micrognathia, Ventricular septal defect, High palate, Arthrogryposis multiplex c... |
OMIM:615731 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular sep... |
OMIM:615524 |
| Diprosopus |
|
Abnormal cardiac septum morphology, Anencephaly, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1681 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Peripheral axonal neuropathy, L... |
OMIM:619389 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Cerebellar malformation, Hydroc... |
ORPHA:324416 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... |
OMIM:618654 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Long philtrum, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Splenomegaly, Ven... |
OMIM:608149 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Cardiomyopathy, Inability to walk, Cerebellar dysplasia, Cerebellar... |
OMIM:613155 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... |
OMIM:614702 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum |
OMIM:608716 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp... |
OMIM:616028 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... |
OMIM:614672 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... |
ORPHA:300751 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor |
OMIM:608029 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... |
OMIM:300580 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... |
OMIM:255160 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... |
ORPHA:206559 |
| Joubert Syndrome 30 |
|
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Molar tooth si... |
OMIM:617622 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,... |
OMIM:615960 |
| Thomas Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
ORPHA:3316 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... |
ORPHA:1170 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus, Lissencephaly |
ORPHA:2185 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Cerebellar atrophy, Progressive spastic paraparesis, Peripheral axonal neuropathy,... |
ORPHA:496756 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Polysplenia, Tetralogy of Fallot, ... |
ORPHA:1335 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Cerebellar hypoplasia, Agang... |
OMIM:304100 |
| Fried Syndrome |
|
Abnormal cerebellum morphology, Gait disturbance, Hydrocephalus, Spastic diplegia |
ORPHA:85335 |
| Acalvaria |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bif... |
ORPHA:945 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Cerebellar h... |
OMIM:615181 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Cerebellar atrophy, Tremor, Ataxia |
OMIM:616187 |
| Glycogen Storage Disease Iv |
|
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hyp... |
OMIM:232500 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ... |
ORPHA:1677 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Congenital diaphragmatic... |
OMIM:300887 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Abnormal heart morphology, Oligohydramnios, Polyhydramnios, Congenital diaph... |
OMIM:263210 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:615411 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defect, Patent duc... |
OMIM:618316 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal clavicle morph... |
ORPHA:93267 |
| Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:2466 |
| Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... |
OMIM:608629 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Simplified gyral pattern |
OMIM:617668 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... |
ORPHA:171442 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... |
ORPHA:99104 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc... |
OMIM:616827 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... |
ORPHA:1120 |
| Coffin-Siris Syndrome 3 |
|
Long philtrum, Umbilical hernia, Abnormal heart morphology, Wide mouth, Inguinal hernia, Thick ve... |
OMIM:614608 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Congenital hip dislocation, Generalized edema, Generalized amyotrophy, Decreased muscle mass, Ara... |
OMIM:271225 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia... |
ORPHA:49827 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Cardiomyopathy, Dilated, 2J |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... |
OMIM:620635 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Atrial septal defect, Ana... |
OMIM:175700 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pachygyria, Ventriculomegaly |
OMIM:617613 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Chorea, Myoclonus, Ga... |
ORPHA:251347 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Cerebellar hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:616486 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, Ventricular sep... |
OMIM:220210 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation |
OMIM:615889 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia, Peri... |
OMIM:616531 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Pe... |
OMIM:607317 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard... |
OMIM:261740 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Cerebellar hypoplasia, Atrial septal defect, Agenesi... |
OMIM:601322 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu... |
OMIM:611556 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:1261 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Abnormal epiphysis morphology, Umbilical hernia, Delayed proximal femoral epiphysea... |
ORPHA:95717 |
| Triploidy |
|
Narrow chest, Finger syndactyly, Intestinal malrotation, Abnormality of the gallbladder, Narrow m... |
ORPHA:3376 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Sensory axonal neuropathy, Dysmetria, Abnormality of extrapyramidal motor fun... |
OMIM:619806 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Simplified gyral pattern, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corp... |
OMIM:619244 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Ventriculomegaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia... |
OMIM:617090 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Cranial nerve paralysis, Partial ... |
OMIM:220220 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... |
OMIM:302500 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... |
ORPHA:98762 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Cellulitis, Prune belly, Chylothorax, Lymphedema, Ascites, Intes... |
OMIM:616843 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ... |
ORPHA:423275 |
| Sonoda Syndrome |
|
Narrow mouth, Ventricular septal defect |
OMIM:270460 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexion contracture, Simplified... |
OMIM:618815 |
| Lissencephaly 6 With Microcephaly |
|
Spasticity, Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Mi... |
OMIM:616212 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Peripheral axonal ... |
OMIM:618387 |
| Autosomal Recessive Amelia |
|
Micrognathia, Amelia, Acromelia of the lower limbs, Orofacial cleft, Abnormal cardiac septum morp... |
ORPHA:1027 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s... |
OMIM:616204 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... |
ORPHA:3400 |
| Trisomy 1Q |
|
Toe syndactyly, Short thorax, Preaxial hand polydactyly, Camptodactyly of finger, Increased nucha... |
ORPHA:261344 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
| 14Q11.2 Microdeletion Syndrome |
|
Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, De... |
ORPHA:261120 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... |
OMIM:613426 |
| Carpenter Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula... |
OMIM:201000 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mesomelia, Mandibular prognathia, Spinal dysraphism, Micromelia, Tetralogy of Fallot, Micrognathi... |
ORPHA:1908 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Impaired tem... |
OMIM:619686 |
| Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Polymicrogyria, Dilated fourth ventri... |
ORPHA:171680 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... |
OMIM:228520 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Gingival bleeding, Atypical scarring of skin, Periodontitis, Bruising susceptibility, Umbilical h... |
OMIM:617174 |
| Tremor, Hereditary Essential, 6 |
|
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... |
OMIM:613728 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... |
ORPHA:370022 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetr... |
OMIM:617207 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... |
ORPHA:97214 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Periventricular heterotopia, Cerebella... |
OMIM:616171 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p... |
OMIM:608227 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Ascites, Gingival overgrowth, Abnormal thorax morphology, Splenomegaly,... |
OMIM:269920 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Lissencephaly, X-Linked, 1 |
|
Spasticity, Agenesis of corpus callosum, Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lis... |
OMIM:300067 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Resting tremor, Falls, Gait... |
OMIM:617225 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Congenital hip dislocation, Dental crowding, Long philtrum, Intestinal mal... |
OMIM:609029 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction velocity, Dist... |
OMIM:607250 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Narrow palate, Narrow chest, Long philtrum, Broad... |
OMIM:617022 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum |
OMIM:616540 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... |
ORPHA:555877 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia |
ORPHA:36 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Mosaic Trisomy 1 |
|
Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septal defect, Arachn... |
ORPHA:1692 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Truncal at... |
OMIM:616230 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intent... |
OMIM:615386 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ventriculomegaly, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramid... |
OMIM:615362 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:613443 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Hepatomegaly, Short... |
OMIM:269860 |
| Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo... |
OMIM:208050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida o... |
OMIM:618736 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... |
OMIM:617751 |
| Fetal Minoxidil Syndrome |
|
Micrognathia, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Pericardial effusion, Right atrial enlarg... |
OMIM:619313 |
| Indomethacin Embryofetopathy |
|
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis |
ORPHA:1909 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly |
OMIM:614120 |
| Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Leg muscle stiffness, Cardiomyopathy, Abnormal cerebellum morphology, Distal lower limb muscle we... |
ORPHA:320360 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... |
OMIM:253300 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Type II lissencephaly, Myopa... |
ORPHA:272 |
| Mogs-Cdg |
|
Generalized edema, Overlapping fingers, Hepatosplenomegaly, Thoracic scoliosis, Cardiomegaly, Pul... |
ORPHA:79330 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Sandal gap, Congestive heart failure, Endocardial fibroelastosis, Abn... |
ORPHA:2022 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Choreoathetosis |
OMIM:125370 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:3207 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Cerebellar atrophy, Difficulty walking, Peripheral axonal neuropathy, Ataxia |
OMIM:619425 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... |
OMIM:616127 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Parkinsonism, Dysdiadochokinesis, Prog... |
OMIM:604326 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Broad-based gait, Ventriculomegaly, Hypoplasia of the pons, Dysmetria, Ankle clonus, Cerebellar h... |
OMIM:606854 |
| Craniofrontonasal Dysplasia |
|
Abnormality of the dentition, Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Campto... |
ORPHA:1520 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Tooth malposition, Congenital diaphragmatic hernia, Ventricular septal def... |
ORPHA:96170 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... |
ORPHA:363705 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... |
OMIM:619402 |
| Joubert Syndrome 24 |
|
Spasticity, Polymicrogyria, Dysmetria, Cerebellar hypoplasia, Gait disturbance, Ataxia, Pachygyria |
OMIM:616654 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Ventriculomegaly, Cardiomyocyte hypertrophy, Hypertrophic card... |
OMIM:618052 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, Budd-Chiari syndrome... |
OMIM:226300 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
| Spinocerebellar Ataxia 1 |
|
Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Dilat... |
OMIM:164400 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Sub... |
OMIM:618291 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia,... |
ORPHA:512260 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Dilated fourth vent... |
OMIM:183090 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Intestinal pseudo-obstruction, Ventricular escape rhythm, Mitral regurgitation, B... |
OMIM:616201 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti... |
ORPHA:254534 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Bradycardia, Cerebellar hypoplasi... |
OMIM:617397 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Encephalocele, Cleft palate |
ORPHA:217 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Cerebellar hypoplasia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle ... |
OMIM:607596 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita... |
ORPHA:63260 |
| Sialidosis Type 2 |
|
Pectus carinatum, Skeletal muscle atrophy, Umbilical hernia, Ascites, Inguinal hernia, Splenomega... |
ORPHA:87876 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Cerebellar hypoplasia, Cerebellar cyst, Ventriculomegaly, Hypoplasia of the pons |
OMIM:613151 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Hemangioblastoma |
|
Trigeminal neuralgia, Cerebellar edema, Hydrocephalus, Dysesthesia, Cerebellar hemangioblastoma |
ORPHA:252054 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Cerebellar dysplasia, Abn... |
ORPHA:101070 |
| Scimitar Syndrome |
|
