| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Enlarged sylvian cistern, Perisylvian polymicrogyria |
OMIM:615752 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Ag... |
OMIM:607432 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia |
OMIM:123155 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydroceph... |
OMIM:604213 |
| Band Heterotopia |
|
Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic... |
OMIM:600348 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615938 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe... |
OMIM:220200 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Right ao... |
OMIM:231060 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Enlarged sylvian cistern, Ventriculomegaly, Agyria, Pachygyria |
ORPHA:1084 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Simplified gyral pattern, Ventriculomegaly, Abnormal cerebellum morphology |
ORPHA:329228 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria |
OMIM:615937 |
| Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... |
ORPHA:401942 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... |
OMIM:611880 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Lissencephaly, Periventricu... |
OMIM:618677 |
| Lissencephaly 3 |
|
Gray matter heterotopia, Ventriculomegaly, Spastic tetraplegia, Agyria, Cerebellar vermis hypopla... |
OMIM:611603 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Simplified gyral pattern, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypopl... |
OMIM:615763 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
| Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:617800 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:171703 |
| Microlissencephaly |
|
Subcortical heterotopia, Ventriculomegaly, Periventricular heterotopia, Simplified gyral pattern,... |
ORPHA:1083 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy, Cerebellar hypoplasia, Periventricular nodular heterotopia, Spa... |
OMIM:618572 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
| Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
| Spinocerebellar Ataxia Type 41 |
|
Gait ataxia, Cerebellar vermis atrophy |
ORPHA:458798 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypoplasia of the brainstem, Ventriculomegaly, Lissencephaly, Pachygyria, Cerebellar atrophy, Pol... |
OMIM:618730 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Polymicrogyria |
OMIM:612691 |
| Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
| Spinocerebellar Ataxia 41 |
|
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Cerebellar corti... |
ORPHA:171622 |
| Periventricular Nodular Heterotopia 8 |
|
Spasticity, Cerebellar vermis atrophy, Periventricular nodular heterotopia |
OMIM:618185 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
| Lissencephaly 4 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum, Colp... |
OMIM:614019 |
| Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Vascular dilatati... |
ORPHA:99095 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Ventral hernia, Anencephaly, Ectopia cordis, Congenita... |
OMIM:313850 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Abnormal cerebellar vermis morphology, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:2703 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Abnormal brain... |
ORPHA:300573 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Death in infancy, Type 1 fibers relatively smaller... |
OMIM:619424 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Dysgy... |
ORPHA:352682 |
| Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear... |
ORPHA:57777 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Hypertension, Agenesis of corpus callosum |
OMIM:166990 |
| Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
| Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
| Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left hea... |
ORPHA:2476 |
| Spastic Paraplegia 88, Autosomal Dominant |
|
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:620106 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... |
OMIM:614473 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... |
OMIM:617018 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia |
ORPHA:1538 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:614830 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ventriculomegaly, Optic atrophy, Ataxia, Olivopontocerebellar atrophy, Hypertonia |
ORPHA:2732 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
| Limb Body Wall Complex |
|
Thoracic hypoplasia, Abnormal thorax morphology, Broad hallux, Spina bifida occulta, Abnormal int... |
ORPHA:2369 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Impaired distal proprioception, Impaired distal vibration sensation, Spasticity, Spastic gait, At... |
OMIM:619742 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, H... |
OMIM:613154 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation |
ORPHA:217012 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Limb ataxia, Spastic gait, Gait ataxia |
OMIM:617133 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
| Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... |
OMIM:600884 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Truncal ataxia, Inability to walk |
OMIM:615268 |
| Mmep Syndrome |
|
Mandibular prognathia, Orofacial cleft, Ventricular septal defect, Median cleft lip |
ORPHA:3434 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy |
ORPHA:423296 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
| Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy, Torticollis, Choreoathetosis, Ataxia, Babins... |
OMIM:619054 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... |
OMIM:611615 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Focal polymicrogyria, Ataxia, Partial agenesis of the corpus callosum, ... |
OMIM:615771 |
| Phenobarbital Embryopathy |
|
Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Malar fla... |
ORPHA:1919 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Simplified gyral pattern, Ventriculomegaly, Ataxia |
OMIM:613402 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:618266 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... |
OMIM:213200 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Gastroschisis, Ectopia cordis, Hand polydactyly, Abnormal rib cag... |
OMIM:217100 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... |
OMIM:604286 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, High palate, Micrognathia, Atrial septal... |
ORPHA:3304 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Ventriculomegaly |
OMIM:115210 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
| Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
| Diprosopus |
|
Non-midline cleft lip, Anencephaly, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:1681 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... |
ORPHA:1457 |
| Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, T... |
OMIM:618273 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... |
OMIM:617967 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia, Optic atrophy |
OMIM:614706 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Optic atrophy, Limb ataxia, Ataxia, Babinski sign, Lower limb spasticity, Cerebellar... |
OMIM:614322 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Ventriculomegaly And Arthrogryposis |
|
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Myoclonus, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, Intention... |
OMIM:618876 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Tip-toe gait, Ventriculomegaly, Cerebellar cyst, Facial diplegia, Diffic... |
ORPHA:370980 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
| Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Retrocerebellar cyst, Dilated fourth ventricle, Gait ataxia, Abnormal pyramidal sign, Dysdiadocho... |
OMIM:614831 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture |
ORPHA:171719 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
| Diamond-Blackfan Anemia 6 |
|
Retrognathia, Ventricular hypertrophy, Patent ductus arteriosus, Cleft upper lip, Ventricular sep... |
OMIM:612561 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Intent... |
ORPHA:284332 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Cerebell... |
OMIM:613153 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Lissencephaly 5 |
|
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Optic atrophy, Hydrocephalus, Spastic ... |
OMIM:615191 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc... |
OMIM:619903 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly |
ORPHA:1568 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Spasticity, Cerebellar hypoplasia, Aganglionic megacolon, Inferior cerebellar vermis hypoplasia, ... |
OMIM:304100 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tricuspid regu... |
ORPHA:99106 |
| Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Abnormal sternum morphology, Mitral stenosis, Bicuspid aortic valve, Pa... |
ORPHA:2847 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... |
OMIM:614096 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Sensory axonal neuropathy, Dysmetria,... |
OMIM:607458 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Gait ataxia, Ventriculomegaly, Optic atrophy, Slurred speech, Cerebellar atrophy |
OMIM:619323 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Abnormal thorax morphology, Upper limb phocomeli... |
ORPHA:294975 |
| Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Impaired distal proprioception, Gait ataxia, Lim... |
OMIM:610245 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm |
OMIM:601163 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Peripheral axonal... |
OMIM:615957 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal jugular vein morphology, Abnormal cardia... |
ORPHA:1677 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... |
OMIM:616948 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria |
OMIM:617584 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Congenital ... |
ORPHA:1166 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Peripheral axon... |
OMIM:610357 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
| Moyamoya Disease |
|
Telangiectasia, Ventriculomegaly |
ORPHA:2573 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ventriculomegaly, Upper limb spasticity, Ataxia, Hypertonia, Lower limb spasticity, Cerebellar at... |
OMIM:613925 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Optic atrophy, Hemiplegia/hemiparesis, Gait... |
ORPHA:2572 |
| Alexander Disease |
|
Abnormal dentate nucleus morphology, Spasticity, Palatal tremor, Hydrocephalus, Ataxia, Babinski ... |
OMIM:203450 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch morphology, Downturned co... |
ORPHA:1110 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Left ventri... |
OMIM:619048 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria |
OMIM:614483 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy |
OMIM:616291 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Long philtrum, Bi... |
ORPHA:477817 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
| Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
| Autosomal Recessive Amelia |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Micrognathia, Acromelia of the lower l... |
ORPHA:1027 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Agenesis of corpus callosu... |
ORPHA:250972 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Ventricular septal defect, Foot oligodactyly, Bilateral cleft lip, Anterior ence... |
OMIM:601357 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Hypersplenism, Right ventric... |
OMIM:616028 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissencephaly, Occipital enceph... |
ORPHA:324416 |
| Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Micrognathia, Nemaline bodies, Cleft palate, Arthrogrypos... |
OMIM:615731 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Spastic tetraplegia, Cerebellar hypoplasia, Simplified gyral pattern, Hydrocephalus, Partial agen... |
OMIM:619302 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Pachygyria, Colpocephaly |
OMIM:614870 |
| Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc... |
OMIM:300718 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... |
OMIM:618782 |
| Nescav Syndrome |
|
Spasticity, Cerebellar vermis atrophy, Optic atrophy, Inability to walk, Appendicular spasticity,... |
OMIM:614255 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar hypoplasia, Hemiparesis, Cerebellar vermis hypoplasia, Lissencephaly, Partial agenesis... |
OMIM:610031 |
| Spinocerebellar Ataxia 11 |
|
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... |
OMIM:604432 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Dysdiadochokinesis, Cerebellar h... |
OMIM:224050 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
| Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Polyhydramnios, Flexion contracture, D... |
OMIM:608149 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis |
OMIM:611694 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
| Myopathy, Myofibrillar, 1 |
|
Third degree atrioventricular block, Restrictive cardiomyopathy, Dilated cardiomyopathy, EMG: myo... |
OMIM:601419 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... |
ORPHA:99104 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... |
ORPHA:363710 |
| Neurodegeneration With Brain Iron Accumulation |
|
Chorea, Spasticity, Optic atrophy, Rigidity, Abnormality of extrapyramidal motor function, Cerebe... |
ORPHA:385 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Spina... |
ORPHA:1908 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Spinocerebellar Ataxia 46 |
|
Gait ataxia, Limb ataxia, Positive Romberg sign, Sensory axonal neuropathy, Dysmetria, Cerebellar... |
OMIM:617770 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem... |
ORPHA:77299 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Thin up... |
OMIM:601927 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem... |
OMIM:615768 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... |
OMIM:613728 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... |
OMIM:612937 |
| Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Ataxia, Impaired pain sensation, Cerebellar vermis... |
ORPHA:1532 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, High palate, Muscle fiber atrophy, Internally nuc... |
OMIM:618654 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Lissencephaly, Colpocephaly |
ORPHA:2185 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... |
ORPHA:945 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Non-midline cleft lip, Absent gallbladder, Abnormal sternum morp... |
ORPHA:1335 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... |
OMIM:220210 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Right bundle branch block, Right axis deviation, Centrally nucleated... |
OMIM:255160 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Flexion contracture, Periportal fibrosis, Short long bone, Oligohydramnios, Conge... |
OMIM:263210 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:608716 |
| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia |
ORPHA:99966 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Inability to walk, Ataxia, Peripheral axonal neuropathy, Lower limb sp... |
OMIM:619389 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Narrow chest, Short philtrum, Downturned corners of mouth, Abnormal cl... |
ORPHA:93267 |
| Thomas Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
ORPHA:3316 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... |
ORPHA:206559 |
| Coffin-Siris Syndrome 3 |
|
Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Short distal ... |
OMIM:614608 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... |
ORPHA:2414 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ... |
OMIM:300580 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Triphalangeal thumb, Preaxial hand polyd... |
ORPHA:1120 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pectus excavatum, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Patent foramen ovale, D... |
OMIM:618316 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ventriculomegaly, Cerebellar hypoplasia |
OMIM:618383 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Decreased muscle mass, High palate, Generalized amyotrophy, Pectus excavatum... |
OMIM:271225 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,... |
ORPHA:1170 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia |
OMIM:615705 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Ventriculomegaly, Pachygyria |
OMIM:617613 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor |
OMIM:608029 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep... |
OMIM:615297 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Long philtrum, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, S... |
OMIM:301022 |
| Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Oculomotor apraxia, Cere... |
OMIM:615960 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Optic nerve hypoplas... |
OMIM:615181 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Simplified gyral pattern, Lateral ventricle dilatation |
OMIM:617668 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Spasticity, Limb ataxia, Ataxia, Dysmetria, Peripheral axonal neuropathy, Cerebellar... |
OMIM:610743 |
| Triploidy |
|
Meningocele, Polyhydramnios, Non-midline cleft lip, Abnormality of the pancreas, Finger syndactyl... |
ORPHA:3376 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:1261 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Fr... |
OMIM:608629 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Chronic sinusitis, Median cleft lip and palate, Median cleft lip, Non-midl... |
ORPHA:1991 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Liss... |
ORPHA:1528 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... |
OMIM:616827 |
| Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation |
OMIM:615889 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... |
OMIM:609200 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
| Sonoda Syndrome |
|
Narrow mouth, Ventricular septal defect |
OMIM:270460 |
| Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... |
ORPHA:3400 |
| Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:2466 |
| Fried Syndrome |
|
Hydrocephalus, Gait disturbance, Abnormal cerebellum morphology, Spastic diplegia |
ORPHA:85335 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Myoclonus, Ataxia |
OMIM:600143 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Spasticity, Agyria, Lissencephaly, Ataxia, Pachygyria, Agenesis of corpu... |
OMIM:300067 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Trisomy 1Q |
|
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Preaxial hand... |
ORPHA:261344 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Left atrial enlargement, Decreased muscle glycogen content, Stroke,... |
OMIM:611556 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Lymphatic Malformation 6 |
|
Polyhydramnios, Cellulitis, Lymphedema, Nonimmune hydrops fetalis, Prune belly, Atrial septal def... |
OMIM:616843 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia, Ventriculomegaly, Molar tooth sign on MRI, Superior cerebellar dysplasia... |
OMIM:617622 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia, Facial palsy, Hydrocephalus, Cere... |
OMIM:613155 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia |
OMIM:616486 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Cleft palate, Short palm, Narrow g... |
OMIM:228520 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, M... |
ORPHA:261120 |
| Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Dilated fourth ventricle, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus,... |
ORPHA:251347 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Gingival recession, Periodontitis, Gingival fragility, Bruising susceptibility, Prominent superfi... |
OMIM:617174 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... |
ORPHA:97214 |
| Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida o... |
OMIM:201000 |
| Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Perisylvian polymicrogyria, Ventriculomegaly, Cerebellar hypoplasia, Cerebe... |
OMIM:616531 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, M... |
OMIM:617090 |
| Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... |
ORPHA:423275 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Spasticity, Perisylvian polymicrogyria, Ventriculomegaly, Aganglionic m... |
ORPHA:171680 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... |
ORPHA:98762 |
| Spinocerebellar Ataxia 49 |
|
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Sensory ... |
OMIM:619806 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... |
ORPHA:555877 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Optic atrophy, Impaired tactile sensation, Torticollis, Upper limb spasticity, Spastic paraplegia... |
OMIM:619686 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum, Atrial septal... |
OMIM:608227 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Hydrops fetalis, Narrow palate, Ventricular septa... |
OMIM:617022 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:613443 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady... |
OMIM:302500 |
| Lissencephaly 6 With Microcephaly |
|
Spasticity, Periventricular heterotopia, Ventriculomegaly, Limb hypertonia, Simplified gyral patt... |
OMIM:616212 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Polyhydramnios, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion con... |
ORPHA:1692 |
| Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hydrops fetalis, High palate, Abnormal thorax morphology, Congestive he... |
OMIM:269920 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... |
OMIM:616204 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Peripheral axonal neuropathy, Steppage gait, Cerebellar a... |
OMIM:618387 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:616540 |
| Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Microdontia, Syndactyl... |
OMIM:601005 |
| Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Ventricular hypertrophy, Flexion contracture, Ischemic stroke, Bifid uvula, Pe... |
OMIM:208050 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Hypoplasia of the ... |
OMIM:618736 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Simplified gyral pattern, Dilated third ventricle, Agenesis of corpus callosum, Lateral ventricle... |
OMIM:619244 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Autosomal Recessive Primary Microcephaly |
|
Agenesis of corpus callosum, Gray matter heterotopia, Ventriculomegaly, Pachygyria |
ORPHA:2512 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, High palate, Truncus arteriosus, Ventricular septal defect, Long philtr... |
OMIM:609029 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Simplified gyral pattern, Dilated cardiomyopathy, Hypertrophic cardiomyopath... |
OMIM:618815 |
| Fetal Minoxidil Syndrome |
|
Micrognathia, Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
| Acrocallosal Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:36 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Abnormal palate morphology, Sandal gap, End... |
ORPHA:2022 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Mogs-Cdg |
|
Polyhydramnios, High palate, Thoracic scoliosis, Pulmonary edema, Left ventricular hypertrophy, A... |
ORPHA:79330 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... |
OMIM:618845 |
| Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... |
OMIM:253300 |
| Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
| Polymicrogyria, Bilateral Frontoparietal |
|
Ankle clonus, Perisylvian polymicrogyria, Ventriculomegaly, Cerebellar hypoplasia, Truncal ataxia... |
OMIM:606854 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Optic atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Hypo... |
OMIM:616171 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Polyhydramnios, Thoracic dysplasia, Median cleft lip, Hepatomegaly, Short palm, ... |
OMIM:269860 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abno... |
ORPHA:95717 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar dysplasia, Hypoplasia of the brainstem, Lateral ventricle di... |
OMIM:617751 |
| Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... |
ORPHA:363705 |
| Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly |
ORPHA:3207 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Oculomoto... |
ORPHA:370022 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Malabsorption, Clubbing of fingers, Clubbing, Edema, Abnormal intestine morph... |
OMIM:226300 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot, Encephalocele |
ORPHA:217 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... |
OMIM:616201 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, High palate, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5t... |
ORPHA:1520 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Optic atrophy, Cardiac arrest, Retinal ... |
ORPHA:49827 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Hypoplastic spleen, Right atrial enlargement, E... |
OMIM:619313 |
| Spinocerebellar Ataxia 1 |
|
Optic atrophy, Truncal ataxia, Babinski sign, Spinocerebellar atrophy, Spasticity, Decreased moto... |
OMIM:164400 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic ca... |
OMIM:618234 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, ... |
ORPHA:63260 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Vascular dilatation, Heart murmur, Pulmonic valve myxoma, Jaundice, Conge... |
ORPHA:615 |
| Maternally-Inherited Diabetes And Deafness |
|
Retinopathy, Hypertension, Congestive heart failure, Abnormal chorioretinal morphology, Hypertrop... |
ORPHA:225 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
| Emanuel Syndrome |
|
Multiple joint contractures, Truncus arteriosus, Delayed eruption of teeth, Ectopic anus, Bifid u... |
ORPHA:96170 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy, Unsteady gait, Intent... |
OMIM:615386 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus, Hydranencephaly, Short distal phalanx of finger, C... |
OMIM:601355 |
| 8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Enlarged tho... |
ORPHA:251071 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spasticity, Optic atrophy, Spastic tetraplegia, Ataxia, Peripheral axonal neuropathy, Cerebellar ... |
OMIM:617207 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy |
OMIM:602541 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I... |
OMIM:617225 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Everted l... |
OMIM:249670 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Cle... |
OMIM:616898 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Ventricular septa... |
ORPHA:254534 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... |
ORPHA:85451 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Ventriculomegaly, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, B... |
OMIM:615362 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Clubbing of fingers, Edema, Ventricular tachyca... |
OMIM:605676 |
| Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomot... |
OMIM:183090 |
| Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Heart block, Abnormal vena cava morphology, Abno... |
ORPHA:185 |
| Cantu Syndrome |
|
Patent ductus arteriosus, Broad first metatarsal, Thick upper lip vermilion, Congenital hypertrop... |
OMIM:239850 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Perisylvian polymicrogyria, Ventriculomegaly, Later... |
OMIM:618291 |
| Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Hip dyspl... |
ORPHA:324604 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Short thorax, Finger syndactyly, Long philtrum, Rib segment... |
ORPHA:2311 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia |
OMIM:125370 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Cerebellar atro... |
OMIM:616230 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Cerebellar ... |
OMIM:607596 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
| Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Aplasia/Hy... |
ORPHA:1263 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:303350 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Death in childhood, Congestive heart failure, Death in infancy |
OMIM:615440 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:500166 |
| Sialidosis Type 2 |
|
Pedal edema, Flexion contracture, Hydrops fetalis, Short thorax, Inguinal hernia, Skeletal muscle... |
ORPHA:87876 |
| Joubert Syndrome 24 |
|
Spasticity, Cerebellar hypoplasia, Gait disturbance, Ataxia, Dysmetria, Pachygyria, Polymicrogyria |
OMIM:616654 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... |
OMIM:616127 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63862 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology |
OMIM:608776 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
| Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
