Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... |
OMIM:614779 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... |
OMIM:619607 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... |
OMIM:615451 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totali... |
OMIM:616749 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... |
OMIM:614874 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Chronic bronchitis, Si... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplen... |
OMIM:619657 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:615500 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... |
OMIM:270100 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent lower respiratory tr... |
OMIM:618254 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... |
OMIM:612444 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Situs inversus totalis... |
OMIM:617092 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... |
OMIM:615444 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Intestin... |
ORPHA:244 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... |
ORPHA:860 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia |
ORPHA:66630 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... |
OMIM:617577 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:612650 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec... |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... |
OMIM:613808 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia |
OMIM:612776 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Renal dysplasia |
OMIM:615985 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea... |
OMIM:314390 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,... |
ORPHA:3304 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... |
ORPHA:1330 |
Meacham Syndrome |
|
Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... |
OMIM:608978 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... |
OMIM:619608 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... |
ORPHA:1666 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot, Cleft palate, Abnorm... |
ORPHA:1926 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Delayed CNS myelination, Failure to thrive in infancy, Extra-axial cerebrospinal fluid accumulati... |
OMIM:617800 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Abdominal situs inversus, Pulmonic stenosis, A... |
OMIM:619123 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ... |
ORPHA:99050 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmo... |
OMIM:609008 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus... |
OMIM:202650 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... |
OMIM:600987 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Absent frontal sinuses, Asplenia, Atelectasis, Bronchiectasis,... |
OMIM:244400 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Absent gallbladder, Ventricular septal... |
OMIM:600001 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextro... |
OMIM:618280 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art... |
OMIM:601186 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insuffi... |
ORPHA:1909 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return |
OMIM:106700 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat... |
OMIM:192430 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Colonic Atresia |
|
Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia |
ORPHA:2863 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Micrognathi... |
ORPHA:2257 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Cholestasis, Perimembranous ventricular... |
OMIM:608104 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... |
ORPHA:1908 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ... |
ORPHA:2255 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Cleft palate, Aortic valve stenosis, Hypoplastic left heart, Pulmonic ... |
OMIM:220210 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... |
OMIM:115197 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Small for gestational age, Partial agenesis of the corpus callosum, Ce... |
ORPHA:79243 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Heart And Brain Malformation Syndrome |
|
High, narrow palate, Ventricular septal defect, Interrupted aortic arch, Gastroesophageal reflux |
OMIM:616920 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,... |
ORPHA:99776 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defec... |
OMIM:618316 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse |
OMIM:173900 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Abnormal tricuspid valve m... |
ORPHA:1759 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na... |
OMIM:612649 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Cleft palate |
OMIM:617616 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... |
OMIM:617877 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Missing ribs, ... |
OMIM:613686 |
8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal aortic... |
ORPHA:251071 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:616816 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, CNS hypomyelination, Decreased body weight, Tetralogy of Fallot, Ventriculom... |
OMIM:617926 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation |
OMIM:300982 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Basal ganglia gliosis, Demyelinating peripheral neuropathy, Dysphagia |
OMIM:607596 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Delayed CNS myelination, Partial agenesis of the corpus callosum, Obesity, Lateral ventricle dila... |
OMIM:617296 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Decreased body weight |
OMIM:619420 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Multiple muscular ventricular septal defects, High palate, Gastroesophageal... |
OMIM:620070 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Glutamine Deficiency, Congenital |
|
CNS hypomyelination, Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Decreased ... |
OMIM:610015 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Alg2-Cdg |
|
Cerebral hypomyelination, Lateral ventricle dilatation |
ORPHA:79326 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia |
ORPHA:89844 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries... |
OMIM:313850 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Delayed CNS myelination |
OMIM:617668 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin... |
ORPHA:391641 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Muscular ventricular septal defect, Velopharyngeal insufficiency, Abnor... |
ORPHA:363444 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
Ververi-Brady Syndrome |
|
High palate, Transposition of the great arteries |
OMIM:617982 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Respiratory distress, Mandibular aplasia |
ORPHA:990 |
Familial Visceral Myopathy |
|
Abdominal situs inversus, Micrognathia |
ORPHA:2604 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Diffuse demyelination of the cerebral white matter |
ORPHA:77299 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... |
ORPHA:99095 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Ciliary Dyskinesia, Primary, 6 |
|
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis |
OMIM:610852 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... |
OMIM:615994 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
High palate, Ventriculomegaly, CNS hypomyelination |
OMIM:615760 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect, Macrocytic anemia |
OMIM:620071 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... |
OMIM:253300 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Gliosis, Peripheral demyelination |
OMIM:221770 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Sweeney-Cox Syndrome |
|
Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Gastroesophageal r... |
OMIM:617746 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Ventricular septal defect, Overweight, High, narrow palate, Hydrocephalus, Hem... |
OMIM:619575 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Lateral ventricle dilatation, High palate, Dilated third ventricle, Agenesis of c... |
OMIM:619244 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, High palate, Transposition of the great arte... |
OMIM:201000 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:618330 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lobulated tongue, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux, Failure to thrive |
ORPHA:250994 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, Hy... |
OMIM:185070 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abdominal situs inversus, Micrognathia |
ORPHA:2062 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Gliosis, Diffuse demyelination of the cerebral white matter, Agene... |
ORPHA:168486 |
Lissencephaly 8 |
|
Cerebral hypomyelination, Occipital encephalocele, Ventriculomegaly |
OMIM:617255 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Delayed CNS myelination |
OMIM:619517 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft pa... |
OMIM:620210 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Interrupte... |
OMIM:300712 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... |
OMIM:615993 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Supernumerary tooth, Small hand, Respiratory insufficiency, Short foot... |
ORPHA:2108 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive |
ORPHA:26 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Dilated third ventricle, Hydrocephalus, Cryptorchidism, Gastroesophageal reflux, Fail... |
ORPHA:500055 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... |
ORPHA:101028 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... |
OMIM:616652 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Abnorma... |
ORPHA:1166 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Delayed CNS myelination, Dilated third ventricle |
OMIM:619725 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Failure to thrive in infancy, Delayed myelination |
ORPHA:284417 |
Diencephalic Syndrome |
|
Hydrocephalus, Cachexia, Decreased body weight |
ORPHA:1672 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis, Coarcta... |
OMIM:217085 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Cleft palate, Double aortic arch, Vascular ring |
OMIM:616954 |
Pontocerebellar Hypoplasia, Type 15 |
|
Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Delayed CNS ... |
OMIM:619302 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... |
OMIM:614886 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... |
OMIM:601612 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Bronchi... |
OMIM:230900 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Delayed CNS myelination |
OMIM:600721 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi... |
OMIM:309801 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate |
OMIM:618804 |
Sotos Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Muscular ventricular se... |
OMIM:117550 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... |
ORPHA:2326 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... |
ORPHA:1667 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Perimembranous ventricular sep... |
OMIM:611376 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Cleft ... |
ORPHA:163979 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula... |
OMIM:614294 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... |
ORPHA:449400 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, High palate, Pulmonary ... |
OMIM:612946 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di... |
OMIM:614034 |
Glutaric Acidemia I |
|
Hydrocephalus, Delayed myelination, Symmetrical progressive peripheral demyelination, Lateral ven... |
OMIM:231670 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect, High palate |
OMIM:618354 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Ventriculomegaly, Leukodystrophy |
OMIM:617613 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis |
OMIM:618205 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly,... |
ORPHA:17 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... |
OMIM:277380 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Respiratory insufficiency |
ORPHA:2111 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... |
ORPHA:2516 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Delayed CNS myelination, Delayed myelination, Lateral ventricle dilatation, High palate, Gastroes... |
OMIM:617854 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Celiac disease, ... |
ORPHA:544488 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, High palate, Volvulus, Failure to thrive, Dandy-Walker malformation |
OMIM:618606 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Interrupted aortic arc... |
ORPHA:250989 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Small for gestational age, Delayed myelination, Cleft palate, CNS hypo... |
OMIM:614261 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Dandy-Walker malformation, Failure to thrive, Meningocele, Colpocephaly,... |
ORPHA:397715 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... |
OMIM:618624 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, High palate |
OMIM:614846 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Short hallux, Micrognathia, Sh... |
ORPHA:280 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Leukodystrophy, CNS hypomyelination |
OMIM:616494 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Delayed CNS myelination |
OMIM:300884 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida, Leukodystrophy |
ORPHA:1931 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Delayed myelination, Gliosis, CNS demyelination, Failu... |
OMIM:214150 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb... |
OMIM:158170 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Delayed myelination |
ORPHA:85290 |
Hemimegalencephaly |
|
Gliosis, Ventriculomegaly |
ORPHA:99802 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... |
OMIM:616589 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... |
OMIM:615996 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Coarctation of the descending aortic arch, Cardiomyopa... |
ORPHA:79321 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl... |
OMIM:616145 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Megarectum, Leukopenia, P... |
OMIM:301056 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Atrioventricular canal defec... |
OMIM:190685 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Ventr... |
OMIM:304100 |
Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation, Dysmyelinating leukodystrophy, Dysphagia |
ORPHA:135 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... |
OMIM:249000 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation |
OMIM:256850 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Abn... |
ORPHA:2059 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Cleft palate |
OMIM:615716 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Dilated third ventricle, Delayed myelination, Gastroesophageal reflux, ... |
OMIM:615574 |
Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Short 5th finger, A... |
ORPHA:52056 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Lissencephaly, X-Linked, 2 |
|
High palate, Gliosis, Agenesis of corpus callosum, Decreased testicular size, Ventriculomegaly |
OMIM:300215 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Hydrocephalus, Delayed CNS myelination, Aortic valve stenosis |
OMIM:615599 |
Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Hydrocephalus, Aganglionic megacolon |
ORPHA:475 |
Digeorge Syndrome |
|
High, narrow palate, Abnormal thymus morphology, High palate, Gastroesophageal reflux, Hypoplasia... |
OMIM:188400 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, CNS hypomyelination, Onion bulb formation... |
OMIM:214400 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Delayed CNS myelination, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine... |
OMIM:616034 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Small for gestational age, Lateral ventricle... |
ORPHA:3078 |
Developmental And Epileptic Encephalopathy 86 |
|
Small for gestational age, CNS hypomyelination |
OMIM:618910 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Delayed myelination, CNS hypomyelination, Cardiomyopathy, Hepatocellular carcinoma, Failure to th... |
ORPHA:88618 |
Central Precocious Puberty In Male |
|
Astrocytoma, Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic ... |
ORPHA:649929 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Small for gestational age, Delayed CNS myelination, Agenesis of corpus callosum, Gliosis |
OMIM:615095 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Submucous cleft hard palate, Mitr... |
OMIM:612863 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia |
OMIM:608776 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, S... |
OMIM:608779 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Lateral ventricle dilatation, Delayed CNS myelination |
OMIM:614105 |
Joubert Syndrome 39 |
|
Hypopnea, Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... |
OMIM:263200 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Renal cyst |
OMIM:174050 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladd... |
ORPHA:96092 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Gastroesophageal reflux, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Gliosis, V... |
OMIM:300957 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Esophageal atresia, Pyloric stenosis, Cleft palate, ... |
OMIM:101200 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Cryptorchidism, Lateral ventricle dilatation, Gliosis, Dysphagia |
OMIM:619847 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Severe demyelination of the white matter |
ORPHA:488635 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral hypomyelination, Failure to thrive, CNS hypomyelination |
ORPHA:369939 |
Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Furrowed tongue, Lateral ventricle ... |
ORPHA:464738 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Abnormal myelination |
ORPHA:352682 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot |
OMIM:613630 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Increased CSF lactate, Agenesis of corpus callosum, Gliosis, CNS hypomyelination |
OMIM:616239 |
Aicardi Syndrome |
|
Delayed CNS myelination, Spina bifida, Hiatus hernia, Partial agenesis of the corpus callosum, Ch... |
OMIM:304050 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Mediastinal lymphaden... |
ORPHA:397 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Gliosis |
OMIM:213200 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
Joubert Syndrome 3 |
|
Atrial septal defect, Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Delayed CNS myelination, Failure to thrive, Gastroesophageal reflux, CNS hypomyelination |
OMIM:616577 |
Pyruvate Carboxylase Deficiency |
|
Increased CSF alanine concentration, Increased CSF citrulline concentration, Delayed myelination,... |
ORPHA:3008 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Intestinal malrotation, Recurren... |
ORPHA:79324 |
Fried Syndrome |
|
Hydrocephalus, High palate |
ORPHA:85335 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Cerebral hypomyelination, CNS demyelination, Gliosis |
OMIM:603896 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale, Lateral ventricle dilatation, Delayed CNS myelination |
OMIM:620075 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Obesity |
ORPHA:141333 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula... |
ORPHA:2461 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... |
ORPHA:1923 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dilatation, Bicuspid aorti... |
OMIM:617751 |
Mirage Syndrome |
|
Thrombocytopenia, Patent ductus arteriosus, Esophageal stricture, Hypoplastic spleen, Intracrania... |
OMIM:617053 |
Renpenning Syndrome |
|
Mandibular prognathia, Heterotaxy, Malar flattening |
ORPHA:3242 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, CNS hypomyeli... |
OMIM:312080 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Anemia, Abnorma... |
ORPHA:2315 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Malar flattening, Ventricular septal defect, Micrognathia |
ORPHA:1388 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, ... |
ORPHA:564 |
Leukodystrophy, Hypomyelinating, 15 |
|
Failure to thrive, Dysphagia, Leukodystrophy, CNS hypomyelination |
OMIM:617951 |
Alexander Disease |
|
Hydrocephalus, Diffuse demyelination of the cerebral white matter, Increased CSF protein concentr... |
OMIM:203450 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Obesity, Mitral valve prolapse, Azoospermia |
ORPHA:2183 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Cerebral dysmyelination, High, narrow palate, Velopharyngeal insufficie... |
OMIM:201550 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ventricular septal defe... |
ORPHA:66634 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Developmental And Epileptic Encephalopathy 14 |
|
Delayed CNS myelination, Gliosis |
OMIM:614959 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,... |
OMIM:618291 |
Slc35A2-Cdg |
|
Failure to thrive in infancy, Delayed myelination, Abnormal heart morphology, Lateral ventricle d... |
ORPHA:356961 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... |
OMIM:606003 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morph... |
ORPHA:314588 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Apneic episodes in infancy, Atrial septa... |
OMIM:619967 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... |
ORPHA:90308 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Isolated Cleft Lip |
|
Situs inversus totalis, Supernumerary maxillary incisor |
ORPHA:199302 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Micrognathia |
OMIM:608227 |
L-2-Hydroxyglutaric Aciduria |
|
Gliosis, Severe demyelination of the white matter |
OMIM:236792 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination, Failure to thrive |
OMIM:300475 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Null Syndrome |
|
Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination |
ORPHA:280234 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve, Delayed myelination |
ORPHA:397951 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... |
OMIM:618846 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology |
OMIM:613390 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vas... |
ORPHA:2331 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, High palate, Ventriculomegaly |
ORPHA:420179 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
Rubinstein-Taybi Syndrome 1 |
|
High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Gastroesophageal... |
OMIM:180849 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Hypoplastic left heart, Polycystic kidney... |
ORPHA:261290 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Abnormal heart morpholog... |
ORPHA:401935 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Narrow palate, CNS hypomyelination, Gastroesophageal reflux, High palate, Neonatal death |
OMIM:618186 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea,... |
OMIM:608836 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... |
ORPHA:3474 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, CNS hypomyelination |
OMIM:619688 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination, Obesity, Ventriculomegaly |
ORPHA:521390 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Abnormal heart morphology, ... |
ORPHA:26791 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly, Leukodystrophy |
OMIM:610333 |
Alexander Disease Type I |
|
Cachexia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Dysphagia, Failure to thrive |
ORPHA:363717 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Ddost-Cdg |
|
Failure to thrive, Gastroesophageal reflux, CNS hypomyelination |
ORPHA:300536 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age |
OMIM:618302 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Acalvaria |
|
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... |
ORPHA:2001 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, CNS hypomyelination |
OMIM:615281 |
Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... |
ORPHA:290 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Patent ductus arteriosus, Narrow palate, Cleft palate, T lymphocytopenia, ... |
OMIM:618223 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic... |
OMIM:616166 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... |
ORPHA:261311 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Perim... |
ORPHA:508498 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiomegaly, Red-brow... |
ORPHA:228308 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Severe demyelination of the white matter, CNS hypomyelination, High palate, Failure to thrive, Ag... |
ORPHA:481152 |
Knobloch Syndrome |
|
Lymphangioma, Pyloric stenosis, Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epi... |
ORPHA:157 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot |
ORPHA:276422 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly, Cardiomegaly |
ORPHA:858 |
Perlman Syndrome |
|
Distal ileal atresia, Volvulus, Pancreatic islet-cell hyperplasia, Interrupted aortic arch |
OMIM:267000 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Alagille Syndrome 2 |
|
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:610205 |
Femoral-Facial Syndrome |
|
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:1988 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... |
ORPHA:261197 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma... |
ORPHA:353281 |
Spastic Paraplegia 50, Autosomal Recessive |
|
High palate, Gliosis, Ventriculomegaly |
OMIM:612936 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination |
ORPHA:88637 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, Protruding tongue, CNS hypomyelination, Extra-axial cerebrospinal fluid ... |
OMIM:619580 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Abnormal CNS myelination, Ventriculomegaly |
OMIM:612951 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Myofiber disarray, Increased CSF lactate, High palate, Gliosis, Hypertroph... |
OMIM:604377 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... |
ORPHA:141127 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Bicuspid aortic valve, CNS hypomyelination, Macroglossia, High palate,... |
OMIM:614501 |
Krabbe Disease |
|
Hydrocephalus, CNS demyelination, Failure to thrive, Increased CSF protein concentration, Periphe... |
OMIM:245200 |
Folinic Acid-Responsive Seizures |
|
Cerebral hypomyelination, Delayed myelination, Decreased CSF 5-methyltetrahydrofolate concentrati... |
ORPHA:79097 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagia... |
ORPHA:488627 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebral hypomyelination, Delayed myelination, Ventriculomegaly |
OMIM:616683 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Cleft palate |
OMIM:601355 |
Marden-Walker Syndrome |
|
Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi... |
OMIM:248700 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
OMIM:617560 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Delayed CNS myelination, High palate, CNS hypomyelination |
OMIM:616158 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima... |
OMIM:231680 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... |
ORPHA:2970 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, CNS hypomyelination |
OMIM:614883 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothalamic hamartoma, CNS hypomyelination |
OMIM:619908 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Patent ductus arter... |
ORPHA:163956 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot |
OMIM:300887 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... |
ORPHA:33276 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... |
OMIM:301043 |
Proteus Syndrome |
|
Splenomegaly, Lymphangioma, Venous malformation |
OMIM:176920 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Retractile testis, Gliosis, Ventriculomegaly, CNS hypomyelination |
OMIM:617193 |
Hereditary Methemoglobinemia |
|
Cerebral hypomyelination, Delayed myelination, Small for gestational age |
ORPHA:621 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... |
OMIM:619769 |
Developmental And Epileptic Encephalopathy 5 |
|
Gastroesophageal reflux, CNS hypomyelination |
OMIM:613477 |
Pagod Syndrome |
|
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m... |
ORPHA:991 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology, CNS hypomyelination |
ORPHA:643 |
Leukodystrophy, Hypomyelinating, 10 |
|
Failure to thrive, Leukodystrophy, CNS hypomyelination |
OMIM:616420 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Short thumb, Patent ductus arteriosus, Abnormal lung lobation, Anomalous p... |
ORPHA:1120 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Delayed myelination, CNS hypomyelination, Increased CSF lactate, Cardiomyopathy, Stillbirth, Neon... |
OMIM:614922 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Charge Syndrome |
|
Atrial septal defect, Anal stenosis, Overriding aorta, Ventricular septal defect, Lymphopenia, Se... |
OMIM:214800 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Hydroureter, Hydronephrosis |
OMIM:618240 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Huntington Disease-Like 1 |
|
Gliosis, Ventriculomegaly, Weight loss |
ORPHA:157941 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
CNS demyelination, Gliosis, Dysphagia |
OMIM:221820 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dysphagia, Leukodystrophy, CNS hypomyelination |
OMIM:607694 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Failure to thrive, CNS hypomyelination |
OMIM:619423 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
ORPHA:527497 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
Congenital Myopathy 19 |
|
Respiratory insufficiency due to muscle weakness, Renal atrophy, Hydronephrosis, Respiratory insu... |
OMIM:618578 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Delayed CNS myelination, Decreased response to growth hormone stimulation test, Failure to thrive... |
OMIM:615286 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cervical myelopathy, Delayed CNS myelination, CNS hypomyelination |
OMIM:619260 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Delayed myelination, Cardiomyopathy, Lateral ventricle dilatation, High... |
ORPHA:572798 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation, Gliosis |
OMIM:607485 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... |
OMIM:615508 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Submucous cleft hard palate, ... |
ORPHA:457279 |
Joubert Syndrome 20 |
|
Respiratory insufficiency, Renal cyst |
OMIM:614970 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc... |
ORPHA:2237 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Agenesis of corpus ca... |
OMIM:218350 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl... |
OMIM:241310 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
High palate, CNS hypomyelination |
OMIM:620023 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Delayed myelination, Dysphagia |
ORPHA:2148 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis, Dysphagia |
OMIM:225753 |
4H Leukodystrophy |
|
Cerebral hypomyelination, Decreased response to growth hormone stimulation test, Dysphagia |
ORPHA:289494 |
Mullegama-Klein-Martinez Syndrome |
|
Cleft palate, Coarctation of aorta, Submucous cleft of soft and hard palate, Hypoplastic left hea... |
OMIM:301022 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis |
OMIM:240300 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Pul... |
ORPHA:1335 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Recurrent respiratory infections, Ciliary dyskinesia |
ORPHA:1882 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Hamartoma of tongue, Bilateral cryptorchidis... |
ORPHA:434179 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydron... |
ORPHA:2437 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination |
OMIM:618559 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Delayed CNS myelination, CNS hypomyelination, Lateral ventricle dilatation, Dysphagia, Cerebral h... |
OMIM:618367 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Apnea, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:214110 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:254516 |
Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Abnormal heart morphology, Gastroesophageal reflux, Gliosis, Anal atre... |
ORPHA:261652 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Obesity |
OMIM:601794 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Delayed CNS myelination, Cleft palate, High palate, Gastroesophageal reflux, Failure to thrive, A... |
OMIM:618603 |
Developmental And Epileptic Encephalopathy 78 |
|
CNS hypomyelination |
OMIM:618557 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Stillbirth, Anal atresia |
OMIM:276950 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination, Ventriculomegaly |
OMIM:611555 |
Charge Syndrome |
|
Aortic arch aneurysm, Abnormal soft palate morphology, Patent ductus arteriosus, Tracheoesophagea... |
ORPHA:138 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Protruding tongue, Reduced alpha/beta synthesis ratio, Hypochromic mic... |
OMIM:301040 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dysphagia, Leukodystrophy, CNS hypomyelination |
ORPHA:447896 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy |
OMIM:616370 |
Leigh Syndrome |
|
CNS demyelination, Failure to thrive, Gliosis, Increased CSF lactate |
OMIM:256000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Gliosis |
OMIM:615119 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... |
OMIM:612474 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Ventricular septal defect, Overweight, Obesity, Dysphagia, Lateral ventricle... |
OMIM:619229 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hi... |
OMIM:606812 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination |
OMIM:619125 |
Aicardi-Goutieres Syndrome 9 |
|
Delayed CNS myelination, Pericarditis, Pericardial effusion, Weight loss, Lateral ventricle dilat... |
OMIM:619487 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, CNS hypomyelination |
OMIM:618437 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Gast... |
OMIM:619534 |
Restrictive Dermopathy |
|
Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tubular aorta aneu... |
ORPHA:1662 |
Leukodystrophy, Hypomyelinating, 22 |
|
CNS hypomyelination |
OMIM:619328 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Failure to thr... |
OMIM:300952 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Failure to thrive, High palate, Cardiomegaly |
OMIM:269920 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Halperin-Birk Syndrome |
|
High palate, Pseudobulbar paralysis, Perimembranous ventricular septal defect, Gastroesophageal r... |
OMIM:618651 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Hypoplasia of the thymus, High palate, Atrioventricular canal defect, Median ... |
ORPHA:40366 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebral hypomyelination, Dysphagia, Leukodystrophy, CNS hypomyelination |
OMIM:614381 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Delayed myelination, Gastroesophageal reflux, Esophagitis, Cerebral hypomyelination, Failure to t... |
ORPHA:79351 |
Pearson Syndrome |
|
Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Cardiomy... |
ORPHA:699 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Respiratory insufficiency |
ORPHA:2924 |
Vater/Vacterl Association |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... |
OMIM:192350 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... |
OMIM:619472 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Cryptorchidism, Cleft palate, Glossoptosis, Lateral ventricle dilat... |
OMIM:611209 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:602501 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma... |
ORPHA:353277 |
Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron... |
OMIM:611560 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, P... |
OMIM:619189 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Dysphagia, Meckel diverticulum, Ventriculomegaly |
ORPHA:163961 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Cog5-Cdg |
|
Cryptorchidism, Lateral ventricle dilatation, High palate, Delayed myelination |
ORPHA:263487 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Short 4th metacarpal |
OMIM:113301 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatic steatosis, Hemolytic anemia, Ventricular septal defect, Mitral atresia, Cleft soft palate... |
OMIM:619503 |
Distal Deletion 10Q |
|
Spina bifida occulta, Cleft palate, Lateral ventricle dilatation, High palate, Atrial septal defe... |
ORPHA:96148 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
OMIM:609757 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Spastic Paraplegia 44, Autosomal Recessive |
|
CNS hypomyelination |
OMIM:613206 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Glioma, Hydrocephalus, Microglossia, Cleft palate, Hypothalamic hamartom... |
OMIM:241800 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Leukodystrophy |
OMIM:616859 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Left ventricular hypertrophy, Dandy-Walker malformation, Agenesis of corpus callos... |
OMIM:613153 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas... |
ORPHA:2962 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Temple Syndrome |
|
Small for gestational age, Overweight, Cryptorchidism, Hydrocephalus, Obesity, Cleft palate, Trun... |
OMIM:616222 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... |
OMIM:614976 |
Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of... |
OMIM:620305 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Leukodystrophy, CNS hypomyelination |
OMIM:610532 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Delayed CNS myelination, Ventriculomegaly, Hydrocephalus, Colpocephaly, High palate, Gastroesopha... |
OMIM:619833 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Gast... |
ORPHA:904 |
German Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, High palate, Dysphagia |
ORPHA:2077 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Developmental And Epileptic Encephalopathy 93 |
|
CNS hypomyelination |
OMIM:618012 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Ventricular septal defect, Dilated fourth ventricle, CNS hy... |
OMIM:619306 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Failure to thrive, Gliosis, Abnormal myelination |
ORPHA:280210 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Normal pressure hydrocepha... |
ORPHA:300570 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Atrial se... |
OMIM:309500 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate |
ORPHA:565624 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
Leukodystrophy, Hypomyelinating, 2 |
|
Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy |
OMIM:608804 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
Noonan Syndrome 14 |
|
Cryptorchidism, High, narrow palate, Mitral valve prolapse, Lateral ventricle dilatation, Pulmoni... |
OMIM:619745 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl... |
ORPHA:567 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Hepatoblastoma, Atrial septal defect, Exaggerated median tongue furrow, H... |
OMIM:312870 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619286 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Coronary art... |
ORPHA:2041 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hep... |
ORPHA:84064 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:220220 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Agenesis of corpus callosum, Ventriculo... |
OMIM:175700 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Dysphagia, Leukodystrophy, CNS hypomyelination |
OMIM:619576 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Delayed CNS myelination |
OMIM:618731 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Pulmonic stenosis, Atrial s... |
OMIM:619149 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bifid uvula, CNS hypomyelination |
OMIM:618622 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Abnormal cerebrospinal fluid morphology |
ORPHA:314404 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect, Gliosis |
ORPHA:357225 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Warsaw Breakage Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Pseudoaminopterin Syndrome |
|
Asplenia, High palate, Patent foramen ovale |
ORPHA:221120 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Rhizomelia, Micromelia, Patent ductus arteriosus,... |
ORPHA:1842 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
CNS hypomyelination |
ORPHA:320401 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, High, narrow palate, Narrow palate, Cerebral hypomyelination, Right ventricular ... |
OMIM:612949 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Hogue-Janssen Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Delayed CNS myelination, Ventriculomegaly |
OMIM:616362 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus arteriosus, Exocri... |
ORPHA:452 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
Arima Syndrome |
|
Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuria, Renal corti... |
OMIM:243910 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal pulmon... |
ORPHA:268261 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Gastroesopha... |
OMIM:210710 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebral hypomyelination, Leukodystrophy |
OMIM:612438 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Submu... |
OMIM:300166 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Agenesis of corpus callosum... |
OMIM:620156 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Incisor macrodontia, Coarctation of aorta |
OMIM:615502 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Sandhoff Disease, Infantile Form |
|
Mitral valve prolapse, Abnormal thalamic MRI signal intensity, CNS hypomyelination |
ORPHA:309155 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr... |
OMIM:249420 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Asthma, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Leukodystrophy |
OMIM:614561 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Tetralogy of Fallot |
OMIM:250620 |
Gabriele-De Vries Syndrome |
|
Delayed CNS myelination, Cryptorchidism, Lateral ventricle dilatation, High palate, Patent forame... |
OMIM:617557 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Gliosis, High palate, Decrease... |
ORPHA:457240 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Malar flattening, Micrognathia |
ORPHA:93946 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... |
OMIM:600460 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Atria... |
OMIM:618142 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Esophageal atresia, Patent ductus arteriosus, Abnorma... |
OMIM:300514 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Respiratory failure, Pulmonary hypoplasi... |
OMIM:616867 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Lateral ventricle dilatation, Dysphagia, Hypothalamic atrophy |
ORPHA:2822 |
3C Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... |
ORPHA:7 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, P... |
OMIM:608149 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... |
OMIM:617159 |
Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Pneumothorax, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy |
OMIM:619196 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Transposition of the great art... |
OMIM:256520 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Decreased response to growth hormone stimulation test, CNS hypomyelination, Dysphagia, Failure to... |
OMIM:618922 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Basal ganglia gliosis, Gliosis, Ventriculomegaly, Increased CSF lactate |
OMIM:614946 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Spontaneous pneumothorax, Renal cyst |
OMIM:135150 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea, Hydronephrosis |
OMIM:619797 |
Bainbridge-Ropers Syndrome |
|
Intestinal malrotation, Cryptorchidism, Lateral ventricle dilatation, High palate, Gastroesophage... |
OMIM:615485 |
Diaphanospondylodysostosis |
|
Respiratory distress, Multiple renal cysts |
ORPHA:66637 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Gliosis |
OMIM:604484 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, CNS demyelination, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618237 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Leopard Syndrome 3 |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal aortic valve morphology |
OMIM:613707 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... |
ORPHA:974 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Developmental And Epileptic Encephalopathy 29 |
|
Failure to thrive, CNS hypomyelination |
OMIM:616339 |
Huntington Disease |
|
Gliosis |
OMIM:143100 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Sporadic Creutzfeldt-Jakob Disease |
|
Increased CSF protein concentration, Gliosis, Astrocytosis |
ORPHA:204 |
Retinal Dystrophy With Leukodystrophy |
|
Cleft palate, CNS hypomyelination |
OMIM:618863 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Cleft soft palate |
ORPHA:293725 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Dysphagia, Cachexia, CNS hypomyelination |
ORPHA:300605 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Aase-Smith Syndrome I |
|
Cleft palate, Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Pyloric stenosis, Cleft palate, Peri... |
ORPHA:83617 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Failure to thrive, Small for gestational age, Lateral ventricle dilatat... |
OMIM:619869 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculomegaly |
ORPHA:93274 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Dysphagia, Agenesis of corpus... |
OMIM:207950 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, He... |
OMIM:612541 |
Tetrasomy 9P |
|
Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Jaundice, B... |
ORPHA:3310 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis, Bilateral lun... |
OMIM:618021 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis, Dysphagia |
OMIM:300857 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Abnormality of the kidney, Polycystic kidney dy... |
OMIM:606232 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Anten... |
ORPHA:536545 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callo... |
OMIM:225790 |
Adenylosuccinase Deficiency |
|
Cerebral hypomyelination, CNS hypomyelination |
OMIM:103050 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Aganglionic m... |
ORPHA:261537 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Retrognathia, Micrognathia, Abnormal heart morphology |
ORPHA:352490 |
Weaver Syndrome |
|
Delayed CNS myelination, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Ventricu... |
OMIM:277590 |
1Q44 Microdeletion Syndrome |
|
Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Agenesis ... |
ORPHA:238769 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Cleft palate, Coarctation of aorta, Atrial septal def... |
ORPHA:2008 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Complete atrioventricular canal... |
OMIM:617925 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal f... |
ORPHA:77298 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... |
OMIM:618494 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:2181 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolon, Cleft hard palate, Pyloric ... |
ORPHA:2152 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
CNS hypomyelination |
OMIM:615966 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Cleft palate, Hypert... |
OMIM:612938 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pu... |
OMIM:614857 |
Huppke-Brendel Syndrome |
|
CNS hypomyelination |
OMIM:614482 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Gliosis, Dysphagia |
OMIM:109150 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gliosis, Dysphagia |
OMIM:618369 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, High palate |
OMIM:300558 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, High, nar... |
OMIM:614816 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Card... |
ORPHA:370959 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventricular septal defect, Obesity, Ventriculomegaly |
OMIM:615630 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu... |
OMIM:615219 |
Spinocerebellar Ataxia 17 |
|
Gliosis, Dysphagia |
OMIM:607136 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Lymphangioma, Arteriovenous malformation |
ORPHA:137608 |
Ring Chromosome 7 Syndrome |
|
Situs inversus totalis, Cleft palate, Hydrocele testis, Holoprosencephaly, Median cleft palate, B... |
ORPHA:1449 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Lateral ventricle dilatation, Agenesis of corpus callosum, Cleft palate |
ORPHA:1692 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Increased CSF lactate, High palate, Increased CSF glycine concentration, Leukodystrophy, Ventricu... |
OMIM:615330 |
Leukodystrophy, Hypomyelinating, 24 |
|
Ventriculomegaly, Leukodystrophy |
OMIM:619851 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... |
ORPHA:261552 |
Emanuel Syndrome |
|
Failure to thrive, Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Cryptor... |
OMIM:609029 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis, Cryptorchidism |
ORPHA:2701 |
Bresek Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Hydrocephalus, Cleft palate, Neonatal death, Decreased tes... |
ORPHA:85284 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe, Atrial septal def... |
OMIM:619356 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate |
ORPHA:398189 |
Developmental And Epileptic Encephalopathy 4 |
|
Cerebral hypomyelination, Delayed CNS myelination |
OMIM:612164 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Pseudobulbar paralysis, Gliosis, Symmetric peripheral demyelination, Leukodystrophy |
OMIM:169500 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia... |
OMIM:617300 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, High, narrow palate, Obesi... |
OMIM:615873 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta... |
ORPHA:805 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cryptorchidism, Partial ... |
OMIM:615948 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Gliosis, Abnormal mitochondrial morphology, Dysphagia |
ORPHA:275872 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy |
ORPHA:99868 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... |
OMIM:602782 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
ORPHA:1895 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Leukodystrophy, Hypertrophic cardio... |
OMIM:619051 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Obesity, Cl... |
ORPHA:177907 |
Atelis Syndrome 1 |
|
Atrial septal defect, Carious teeth, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Dyspnea, Tachypnea, Pulmonic stenosis, Atrial septal defect, Hypertrop... |
ORPHA:3282 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Patent... |
ORPHA:1708 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... |
ORPHA:2473 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Int... |
OMIM:243150 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Pulmonic stenosis |
OMIM:620141 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septu... |
ORPHA:96147 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short foot |
ORPHA:228399 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Delayed myelination, Lateral ventricle dilatation, High palate, Gliosi... |
OMIM:300868 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Atrial septal de... |
OMIM:614866 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
CNS hypomyelination, Inflammation of the large intestine, Rectovaginal fistula, Leukodystrophy, D... |
OMIM:619708 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Micrognathia, Dental malocclusion, Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Gliosis |
OMIM:614498 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
Metatropic Dysplasia |
|
Hydrocephalus, Cleft palate |
ORPHA:2635 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Fusion of th... |
ORPHA:59315 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Malar flattening |
ORPHA:261295 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Hydrocephalus, Esophageal varix, Inflammation of the large intestine, ... |
OMIM:614576 |
Emanuel Syndrome |
|
Failure to thrive, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, ... |
ORPHA:96170 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... |
OMIM:174300 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Micrognathia |
OMIM:605321 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Hypertrophic ... |
OMIM:616897 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Leukodystrophy |
OMIM:613163 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity |
ORPHA:171839 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... |
ORPHA:1199 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Lateral ven... |
OMIM:263520 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Trisomy 13 |
|
Ventricular septal defect, Abnormality of the ureter, Multiple renal cysts, Atrial septal defect,... |
ORPHA:3378 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebral hypomyelination, Pseudobulbar paralysis |
ORPHA:438114 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Micrognathia, Recurrent pneumonia, Bronchiectasis, Recurrent si... |
OMIM:618282 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Micrognathia, Short thumb, Short 5th finger, Patent foramen ovale |
OMIM:618821 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, High palate, Obesity |
ORPHA:2180 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Pyloric stenosis, High palate, Dandy-Walker malformation |
OMIM:310400 |
Triploidy |
|
Intestinal malrotation, Cryptorchidism, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, A... |
ORPHA:3376 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta... |
ORPHA:2044 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:619909 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Failure to thrive, Delayed myelination, Ventriculomegaly |
ORPHA:2169 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Sandhoff Disease |
|
Macroglossia, Cardiomegaly, CNS hypomyelination |
OMIM:268800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Respiratory failure, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Gliosis, Peripheral demyelination, Ventriculomegaly |
OMIM:252160 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
CNS hypomyelination |
ORPHA:280229 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Xerostomia, CNS hypomyelination |
OMIM:618527 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, CNS demyelination, Increased CSF protein concentration, Peripheral demyelination, ... |
OMIM:272200 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... |
OMIM:615355 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Small for gestational age |
OMIM:613330 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis |
OMIM:604218 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Leigh Syndrome |
|
Ventricular septal defect, Gastrointestinal dysmotility, Abnormal thalamic MRI signal intensity, ... |
ORPHA:506 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T... |
OMIM:153400 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis |
OMIM:618950 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:615668 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Small for gestational age, Decreased CSF albumin concentration, Delayed myelination, Decreased CS... |
ORPHA:404454 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Gliosis, Ventriculomegaly |
OMIM:618222 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Gliosis, Ventriculomegaly |
OMIM:618321 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Ventricular septal defect, Micrognathia, Small hand, Aortic root aneurysm, Pulmonary... |
OMIM:145420 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Neonatal respiratory distress, Secundum atrial septal defect, Patent ductus ar... |
OMIM:616866 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Pneumonia, Respiratory tract infection, Atelect... |
ORPHA:51636 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr... |
ORPHA:96167 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
Wrinkly Skin Syndrome |
|
Muscular ventricular septal defect, Atrial septal dilatation, High palate |
OMIM:278250 |
B4Galt1-Cdg |
|
Hydrocephalus, Small for gestational age, Dandy-Walker malformation |
ORPHA:79332 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Apneic episodes in infancy |
OMIM:301058 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Cleft palate, Dandy-Walker malformation |
OMIM:607361 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Spinocerebellar Ataxia 23 |
|
CNS demyelination, Agenesis of corpus callosum |
OMIM:610245 |
Fucosidosis |
|
Macroglossia, Failure to thrive, Cardiomegaly, CNS hypomyelination |
OMIM:230000 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Asthma, Pulmonary arte... |
OMIM:616777 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly |
OMIM:619479 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pericarditis |
ORPHA:163596 |
Marbach-Rustad Progeroid Syndrome |
|
Ventricular septal hypertrophy, CNS hypomyelination |
OMIM:619322 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis |
OMIM:105550 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali... |
ORPHA:1677 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:60040 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Agenesis of cor... |
OMIM:609053 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, R... |
ORPHA:97362 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
CNS demyelination, Leukodystrophy, Dysphagia |
OMIM:264470 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Recurrent urinary tract infections, Renal insufficiency, Spontaneous pneumothora... |
ORPHA:731 |
Wolfram Syndrome 1 |
|
Cardiomyopathy, Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... |
ORPHA:508488 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... |
OMIM:616564 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Neonatal respiratory distress, Ventricular septal defect, Micromelia, Patent d... |
OMIM:618870 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia |
OMIM:619699 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
D-Bifunctional Protein Deficiency |
|
Cerebral dysmyelination, High palate, Gliosis, Failure to thrive, Ventriculomegaly |
OMIM:261515 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Gastroesophageal reflux, Ventricular septal defect, Cleft palate |
ORPHA:513456 |
Trisomy 1Q |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Cleft palate, Anal atresia, Agenesis of... |
ORPHA:261344 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Agenesis o... |
ORPHA:2189 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, High palate, Cleft palate, CNS hypomyelination |
OMIM:614230 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Distal Deletion 12Q |
|
Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret... |
ORPHA:96149 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Hydrocephalus, Pyloric... |
ORPHA:93932 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Malar flattening, Short toe |
ORPHA:921 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Abnorma... |
OMIM:222470 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Short metatarsal, Abnormal heart morphology, Atrial septal defect, Short d... |
ORPHA:217017 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Cleft palate, Atrial septal defect, Aortic valve stenosis, Agenesis of corpus call... |
ORPHA:459061 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Retrognathia, Micrognathia |
OMIM:617808 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Duodenal ulcer, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Micrognathia |
ORPHA:776 |
Encephalocraniocutaneous Lipomatosis |
|
Astrocytoma, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosi... |
OMIM:613001 |
Leukodystrophy, Childhood-Onset, Remitting |
|
Leukodystrophy |
OMIM:619864 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Short distal phalanx of finger |
OMIM:611816 |
Congenital Heart Block |
|
Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural eff... |
ORPHA:60041 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Anomalous branches of internal carotid artery,... |
ORPHA:363705 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, D... |
OMIM:617063 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Failure to thrive, High palate |
OMIM:614098 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss... |
ORPHA:1900 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Anteriorly placed anus, High palate, Cerebral hypomyelination, Bifid uvula |
ORPHA:247262 |
Lymphatic Malformation 6 |
|
Splenomegaly, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylothorax, Atrial sept... |
OMIM:616843 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Increased CSF protein concentration, Gliosis |
OMIM:608033 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Netherton Syndrome |
|
Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis |
ORPHA:634 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... |
ORPHA:506358 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Familial Acute Necrotizing Encephalopathy |
|
Increased CSF protein concentration, Abnormal thalamus morphology, Gliosis |
ORPHA:88619 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Protruding tongue, Conotruncal defect, Macroglossia, Gastroesop... |
OMIM:610253 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos... |
ORPHA:261494 |
Verheij Syndrome |
|
Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus |
OMIM:615583 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mandibular prognathia, Micrognathia |
OMIM:608572 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst |
OMIM:610199 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Failure to thrive |
OMIM:620157 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Pituitary go... |
ORPHA:91348 |
Johnson Neuroectodermal Syndrome |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:2316 |
Enlarged Parietal Foramina |
|
Cleft palate, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly, Leukodystrophy |
OMIM:616538 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Agenesis of corpus callosum, High palate, Atrial septal... |
OMIM:612582 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Polycystic kidney dysplas... |
OMIM:311200 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, High palate, Gastroesophageal reflux, Failure to thrive, Agenesis of corpus callosum |
OMIM:612940 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Episodic tachypnea |
OMIM:615160 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Respiratory fail... |
ORPHA:445038 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Tarp Syndrome |
|
Meckel diverticulum, Subdural hemorrhage, Cleft palate, Tongue nodules, Glossoptosis, High palate... |
OMIM:311900 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Dyspnea, Patent foramen ovale, Exertional dyspnea |
OMIM:615156 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
Crouzon Syndrome |
|
Hydrocephalus, Narrow palate |
ORPHA:207 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect, Hydronephrosis |
ORPHA:457193 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cleft palate, Anteri... |
OMIM:146510 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis, Respiratory insufficiency |
ORPHA:2484 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tricuspid valve m... |
ORPHA:485405 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Pulmoni... |
ORPHA:435638 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Ventricular septal defect, Micrognathia, Hepatic melanin-like lysosomal pig... |
OMIM:208085 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Delayed CNS myelination, Bicuspid aortic valve, Ventricular septal ... |
OMIM:607872 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Hydrocephalus, Delayed myelination, Cleft palate, Abnormal heart morpholog... |
OMIM:239300 |
Aicardi-Goutieres Syndrome 6 |
|
Increased CSF interferon alpha, CSF pleocytosis, Leukodystrophy |
OMIM:615010 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
Tetraamelia Syndrome 1 |
|
Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Anal atresia |
OMIM:273395 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis, Peripheral demyelination, Ventriculomegaly |
OMIM:252150 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulm... |
OMIM:611812 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent pneumonia, Recurrent upper respiratory tract infections,... |
OMIM:614868 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena... |
ORPHA:49 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Thrombocytopenia, Tetralogy of Fallot, Cleft palate |
ORPHA:3320 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Respiratory insufficiency, ... |
ORPHA:912 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:610733 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatic failure, Cholestasis, Coarctati... |
OMIM:118450 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Delayed CNS myelination, Lateral ventricle dilatation, High palate, Gastroesophageal reflux, Atri... |
OMIM:300896 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatic steatosis, Hepatomegaly, Dyspnea, Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis |
ORPHA:2119 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Short ribs, Atrial sep... |
ORPHA:2519 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Combined Saposin Deficiency |
|
CNS demyelination |
OMIM:611721 |
Kabuki Syndrome 1 |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Malabsorption, Cryptorchidism, ... |
OMIM:147920 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc... |
ORPHA:79404 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... |
ORPHA:97289 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Griscelli Syndrome |
|
Encephalocele, Pyloric stenosis, Hydrocephalus |
ORPHA:381 |
Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal salivary gland morphology |
ORPHA:31 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Anal stenosis, Abnormal heart morphology |
OMIM:601499 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Desmosterolosis |
|
Intestinal malrotation, Hydrocephalus, Submucous cleft hard palate, Anomalous pulmonary venous re... |
ORPHA:35107 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Increased CSF protein concentration, Peripheral demyelination, Dysphagia |
OMIM:249900 |
Ivic Syndrome |
|
Intestinal malrotation, Thrombocytopenia, Patent ductus arteriosus, Leukocytosis, Rectovaginal fi... |
OMIM:147750 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Anteriorly p... |
ORPHA:3338 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Pulmonary arte... |
OMIM:616449 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aort... |
ORPHA:96334 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Muenke Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:53271 |
Tay-Sachs Disease |
|
Gliosis, Abnormal thalamic MRI signal intensity, Ventriculomegaly, Dysphagia |
ORPHA:845 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, High, narrow palate, Hydrocephalus, Pyloric stenosis, Midgut malrotatio... |
ORPHA:2409 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... |
OMIM:620025 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Delayed CNS myelination, Decreased response to growth hormone stimulation test, Colpocephaly, Mit... |
OMIM:617260 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A... |
ORPHA:227990 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Micromelia |
ORPHA:1035 |
Genitopatellar Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Apnea, Hydronephrosis |
ORPHA:85201 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis, Absent thumb |
OMIM:619239 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect, Short distal phalanx of finger |
OMIM:616938 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Micrognathia, Descending thoracic aorta aneurysm, Pat... |
OMIM:609192 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Macroglossia, Leukodystroph... |
ORPHA:79325 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:3079 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination, Failure to thrive |
ORPHA:477673 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia |
ORPHA:3016 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Malar flattening, Micrognathia |
ORPHA:79113 |
Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Cleft palate, Total anomalous pulmonary v... |
OMIM:602398 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hydrocephalus, Wei... |
OMIM:619377 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Gastroesophageal reflux, Dy... |
ORPHA:494344 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Cleft palate, Pulmonic stenosis, Atrial... |
OMIM:257300 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Leukodystrophy, Increased CSF lactate |
OMIM:618242 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Dandy-Walker malformati... |
ORPHA:899 |
Wiedemann-Rautenstrauch Syndrome |
|
Slender build, Decreased response to growth hormone stimulation test, Cryptorchidism, Hydrocephal... |
ORPHA:3455 |
Zaki Syndrome |
|
Renal agenesis, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale, Hypoplasia of teeth |
ORPHA:88630 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A... |
ORPHA:227982 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Agenesis of corpus callosum |
ORPHA:220497 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Carious teeth, Coarctation of aorta, Aortic r... |
OMIM:617602 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Tracheomalacia |
ORPHA:896 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Intrahepati... |
OMIM:243800 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Failure to thrive, Dysphagia, Leukodystrophy, Increased CSF lactate |
OMIM:618226 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Hypospadias, Abnormal cardiac septum morphology, Ves... |
ORPHA:96169 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... |
ORPHA:3015 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Dextrocardia, Aplasia/Hypoplasia of the sternum, Missing ribs, S... |
ORPHA:2911 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:377 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Dandy-Walker ... |
OMIM:614424 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Esophagitis, CNS hypomyelination |
OMIM:615356 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Cerebral hypomyelination |
ORPHA:457351 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Hepatomegaly, Ventricular septal defect, Micrognathia, Cholestasis, Reduc... |
ORPHA:52 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Failure to thrive, Ventriculomegaly, Leukodystrophy |
ORPHA:431361 |
Proteus-Like Syndrome |
|
Venous insufficiency, Bronchogenic cyst, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Tetralogy of Fallot,... |
ORPHA:2919 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Anal atresia |
OMIM:617244 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
3-Methylglutaconic Aciduria, Type V |
|
Atrial septal defect, Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Dilated car... |
OMIM:610198 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Renal cyst |
OMIM:614862 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Micrognathia, Small hand, Short foot, Short finger, Atrial septal defe... |
OMIM:270450 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Hydrocephalus, High palate, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617822 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Left ventricular hypertrophy, Hypopitui... |
ORPHA:90065 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs |
ORPHA:96190 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Patent ductus arteriosus, Short toe, Aortic root aneurysm, Atrial septal d... |
ORPHA:404443 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Abnormal lung lobation, Cleft palate, Coarctation of aorta, Acute lymphobla... |
ORPHA:1052 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Central hypoventilation, Left superior vena cava draining to coronary sinus |
OMIM:611961 |
Tenorio Syndrome |
|
Macroglossia, Hydrocephalus, Gastroesophageal reflux, Ventriculomegaly |
OMIM:616260 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ... |
ORPHA:2072 |
Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Stillbirth, Agenesis of cor... |
OMIM:243605 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, CNS demyelination |
OMIM:618193 |
Thanatophoric Dysplasia Type 1 |
|
Short femur, Micromelia, Patent ductus arteriosus, Respiratory insufficiency, Aplasia/Hypoplasia ... |
ORPHA:1860 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections, Hyperplasia of the m... |
OMIM:620194 |
Leukodystrophy, Hypomyelinating, 16 |
|
Delayed CNS myelination, Failure to thrive, Leukodystrophy |
OMIM:617964 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Ventricular septal defect, Episodic tachypnea, Pneumonia, Per... |
ORPHA:26793 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly, High palate, Dys... |
ORPHA:261250 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph... |
OMIM:235510 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Mandibular prognathia |
OMIM:619721 |
Femoral-Facial Syndrome |
|
Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni... |
OMIM:134780 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Gliosis |
OMIM:256600 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hydrocephalus, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Hypoplasia of the maxilla, Asthma, Patent ductus arteriosus, Recurrent upper respirato... |
ORPHA:293939 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Cachexia, Malabsorption, Myocarditis, Hydrocephalus |
ORPHA:3452 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, ... |
OMIM:620113 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Respiratory insufficiency, Renal cyst |
ORPHA:2031 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cleft palate, Tongue nodules, Glossoptosis, Pulmonary hypoplasia, A... |
ORPHA:2886 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:2075 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Dyspnea, Abnormal aortic valve mor... |
ORPHA:35687 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Congenital Disorder Of Deglycosylation 1 |
|
Delayed CNS myelination, Oral-pharyngeal dysphagia, Decreased CSF albumin concentration, Delayed ... |
OMIM:615273 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral hypomyelination, Dysphagia |
ORPHA:496641 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Mitral ... |
OMIM:121050 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Left superior vena cava draining to coronary sinus, Limb undergrowth, Comm... |
OMIM:619143 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia |
ORPHA:93259 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Cerebral hypomyelination |
ORPHA:280219 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Micrognathia |
OMIM:614526 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Delayed CNS myelination, Small for gestational age, Gastroesophageal reflux, Leukodystrophy, Dysp... |
OMIM:615471 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Absence of the pulmonary valve, Ventricu... |
OMIM:601808 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Hypopl... |
OMIM:100300 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Gliosis, Ventriculomegaly |
OMIM:301072 |
Clapo Syndrome |
|
Lymphangioma, Varicose veins, Venous malformation |
ORPHA:168984 |
Scalp-Ear-Nipple Syndrome |
|
Cardiac myxoma, Lateral ventricle dilatation, Bifid uvula |
OMIM:181270 |
Hamamy Syndrome |
|
Microcytic anemia, Complete atrioventricular canal defect, High palate, Hypochromic anemia, Atria... |
OMIM:611174 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Pyloric stenosis, Pulmo... |
OMIM:235730 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Apert Syndrome |
|
Esophageal atresia, Hydrocephalus, Narrow palate, Cleft palate, Ectopic anus, Agenesis of corpus ... |
ORPHA:87 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Vesic... |
OMIM:300707 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Increased CSF lactate |
OMIM:614932 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, Short thumb, Abnormality of frontal sinus, Atrial septal defect, Peripheral pulmona... |
ORPHA:436003 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Functional abnormality of the bladder, Pneumothorax, Nephrolithi... |
ORPHA:2953 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl... |
OMIM:607323 |
Constricting Bands, Congenital |
|
Ectopia cordis, Abnormal lung lobation, Cleft palate |
OMIM:217100 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Retrogna... |
OMIM:617061 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Dyspnea, Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaort... |
OMIM:612098 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Atrial septal defect, Failure to thrive in infancy, Submucous cleft soft palate, Dysplastic corpu... |
ORPHA:500150 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Rhizomelia, Micrognathia, Abnormal lung lobation, Coarctation of aorta... |
OMIM:614114 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... |
OMIM:135500 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Elevat... |
OMIM:619525 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Dental malocclusion, Coarctation of aorta, Short 5th finger, Pulmonic ... |
OMIM:300867 |
47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Oligozoospermia, Azoospe... |
ORPHA:8 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... |
OMIM:142900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Cleft palate, Macroglossia, Agenesis of corpus callosum, Ventriculo... |
OMIM:613150 |
Isolated Sedoheptulokinase Deficiency |
|
Abnormal CNS myelination, Ventriculomegaly, Steatorrhea |
ORPHA:440713 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Restrictive cardiom... |
OMIM:615398 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Cardiomegaly, Retrognathia, Hepatospl... |
ORPHA:79330 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Micromelia, Patent ductu... |
ORPHA:2637 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Cystic Echinococcosis |
|
Asthma, Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Hepatic cysts |
ORPHA:400 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Small for gestational age, Cryptorchidism, Coronary artery fistula, Ne... |
OMIM:620024 |
Pontocerebellar Hypoplasia, Type 2A |
|
Gliosis, Dysphagia |
OMIM:277470 |
Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Hydrocephalus, High palate, Ventriculomegaly |
OMIM:614969 |
Limb Body Wall Complex |
|
Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality of the liver, Abn... |
ORPHA:2369 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Accessory spleen, Acute respiratory distress syndrome, Portal hypertension, Mic... |
OMIM:620005 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Mandibular prognathia, Pulmonic stenosis |
OMIM:611553 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Micrognathia, Atrial septal defect, Malar flatte... |
OMIM:610536 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus |
OMIM:187600 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Patent foramen... |
OMIM:251290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Ascending tubular aorta aneur... |
OMIM:309520 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Anal atresia |
ORPHA:3301 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, High palate |
ORPHA:476126 |
Shashi-Pena Syndrome |
|
Short metacarpal, Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Atrial septal defec... |
OMIM:617190 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Venous malformation |
OMIM:612918 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Atrial septal defect, Hyper... |
OMIM:619383 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Partial agenesis of the corpus ... |
OMIM:220111 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
ORPHA:93260 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Mannosidosis, Alpha B, Lysosomal |
|
Macroglossia, Delayed myelination, Gliosis |
OMIM:248500 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis, Mitral valve prolapse |
OMIM:104350 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Micrognathia, Atr... |
OMIM:619720 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
High palate, Hydrocephalus, Delayed CNS myelination |
OMIM:618590 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pul... |
OMIM:618454 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Icf Syndrome |
|
Communicating hydrocephalus, Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Schilder Disease |
|
CNS demyelination, Increased CSF protein concentration, CSF pleocytosis |
ORPHA:59298 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Leukodystrophy, Dysphagia |
OMIM:617916 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Hydrocephalus, Demyelinating peripheral neuropathy |
ORPHA:220295 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Failure to thrive |
OMIM:259700 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon |
ORPHA:2318 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Limb undergrowth, Atrial septal defect, Recurrent lower respiratory tra... |
OMIM:618005 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... |
ORPHA:91350 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Dyspnea, Patent ductus arteriosus, Patellar hypoplasia, Pulmonary arterial hypertension, Atrial s... |
ORPHA:261279 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Right ao... |
OMIM:164210 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Doors Syndrome |
|
Narrow palate, Cleft palate, High palate, Gastroesophageal reflux, Aspiration pneumonia, Thromboc... |
ORPHA:79500 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Leukodystrophy, Increased CSF lactate |
OMIM:618225 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:453499 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Rhizomelia, Patent ductus arteriosus, Hypoplasi... |
OMIM:607143 |
Floating-Harbor Syndrome |
|
Celiac disease, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left superior ... |
OMIM:136140 |
Leukodystrophy, Hypomyelinating, 17 |
|
Leukodystrophy |
OMIM:618006 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the maxilla, Asthma, Patent ductus arteriosus aft... |
ORPHA:251061 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, High palate |
OMIM:616294 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Short 5th finger, Atrial septal defect, Shor... |
OMIM:220500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral... |
OMIM:614080 |
Tetrasomy 5P |
|
Hydrocephalus, Failure to thrive, High palate |
ORPHA:3309 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology |
ORPHA:1865 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Delayed CNS myelination, Cleft palate, Leukodystrophy |
OMIM:620269 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Patent ductus... |
OMIM:617303 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, High palate, Failure to thrive |
OMIM:608091 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Bdv Syndrome |
|
Atrial septal defect, Micrognathia |
OMIM:619326 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... |
OMIM:608022 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonic stenosis, Hy... |
OMIM:616737 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Retrognathia, Ventricular septal defect |
OMIM:617452 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V... |
ORPHA:1225 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Protruding tongue, Abnormal heart morphology |
ORPHA:93400 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Increased pulmonary vascular resis... |
ORPHA:99104 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Ventricular septal defect, Hypospadias, Albuminuria, Aminoaciduria... |
OMIM:214100 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:395 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Partial agenesis of the cor... |
OMIM:305450 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Rabin-Pappas Syndrome |
|
Hydrocephalus, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Protruding tongue, Dilated cardiomyopathy... |
ORPHA:2388 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal de... |
OMIM:300998 |
Achondroplasia |
|
Hydrocephalus, Obesity |
ORPHA:15 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia |
OMIM:619314 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Aplasia/Hypoplasia of th... |
ORPHA:84 |
Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Maxillozygomati... |
ORPHA:1790 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Opitz Gbbb Syndrome |
|
Natal tooth, Ventricular septal defect, Tracheomalacia, Micrognathia, Patent ductus arteriosus, A... |
ORPHA:2745 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Agenesis of corpus callosum, B... |
OMIM:123790 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis |
OMIM:231005 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery hypoplasia, Atrial septal d... |
OMIM:300963 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Livedoid Vasculopathy |
|
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... |
ORPHA:542643 |
Meige Disease |
|
Varicose veins, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart |
OMIM:618829 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... |
OMIM:614643 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Cleft palate |
OMIM:224400 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Par... |
OMIM:610828 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Pituitary hypothyroi... |
ORPHA:54595 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia |
ORPHA:2839 |
Leukodystrophy, Hypomyelinating, 3 |
|
Sudanophilic leukodystrophy, Failure to thrive, Leukodystrophy |
OMIM:260600 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Left ... |
OMIM:619167 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Tracheobronchomalacia, Short palm, Atrial septal defect, Enamel hypoplasia, Pat... |
OMIM:619184 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus |
OMIM:619951 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Alazami Syndrome |
|
Atrial septal defect, Malar flattening |
ORPHA:319671 |
Chromosome 17P13.1 Deletion Syndrome |
|
Delayed CNS myelination, Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High... |
OMIM:613776 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Retrognathia, Ventricular septal defect |
ORPHA:505237 |
Pfeiffer Syndrome |
|
Hydrocephalus, High palate |
OMIM:101600 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Renal dysplasia, Hydronephrosis, Respiratory distress |
OMIM:300968 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ventricular septal defect, Hepatic cysts, Ureteral hypoplasia, Pericar... |
ORPHA:79328 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Patent foramen ovale, ... |
OMIM:618460 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Cor pulmonale, Mitral valve prolapse, Stridor, Hydronephrosis |
OMIM:305620 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity, Leukodystrophy, Left ventricular hypertrophy, Hypertrophi... |
ORPHA:444013 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus... |
ORPHA:1606 |
Progressive Supranuclear Palsy |
|
Gliosis, Dysphagia |
ORPHA:683 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
Hurler Syndrome |
|
Hydrocephalus, Macroglossia, Cardiomyopathy, Abnormal CNS myelination, Endocardial fibroelastosis |
OMIM:607014 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Patent ductus arteriosus, Short toe, Small hand, Short middle phalanx of finger, Sh... |
OMIM:605130 |
Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
CNS demyelination, Delayed CNS myelination, Partial agenesis of the corpus callosum |
OMIM:619653 |
Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Intestinal pseudo-obstruction, Hydrocephalus, Abnormal heart valve morphology |
OMIM:309900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Micrognathia, Mitral valve prolapse |
OMIM:300986 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... |
ORPHA:1855 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Nephrolithia... |
ORPHA:18 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Splenomegaly, Patent ... |
OMIM:269860 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Abnormal CNS myelination, High palate, Increased CSF lactate |
OMIM:619053 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:613603 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Neonatal death, Hydrocephalus, Gastroesophageal reflux |
OMIM:616482 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Patent ductus arteriosus, Asthma, Mesomelia, Atrial septal defect,... |
OMIM:618162 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Delayed CNS myelination, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of ... |
OMIM:619512 |
Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesop... |
ORPHA:3412 |
Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus, Meningocele, Cle... |
OMIM:130720 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Malar flattening, Patent ductus arteriosus |
OMIM:602482 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitra... |
OMIM:617660 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:235255 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Vesicourete... |
OMIM:610443 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, High pa... |
OMIM:616914 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Cleft palate, Narrow palate, Anteriorly placed anus |
ORPHA:1555 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal card... |
ORPHA:2166 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp... |
ORPHA:217085 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Micrognathia, Vascular dilatation, Atelectasis, Recurrent pneumonia, Pulmonary ... |
OMIM:613177 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Hydrocephalu... |
OMIM:300373 |
Peroxisome Biogenesis Disorder 8B |
|
Failure to thrive, Peripheral demyelination, Leukodystrophy, Dysphagia |
OMIM:614877 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Crouzon Syndrome |
|
Hydrocephalus, High palate |
OMIM:123500 |
Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Holoprosencephaly, At... |
OMIM:147791 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Aplasia of the epiglottis, Coarctation of a... |
OMIM:617088 |
Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:300523 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
Aicardi-Goutieres Syndrome 5 |
|
Leukodystrophy, CSF lymphocytic pleiocytosis |
OMIM:612952 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Failure to thrive in ... |
ORPHA:1340 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... |
OMIM:272950 |
Bohring-Opitz Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, M... |
OMIM:605039 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Pericarditis, Ureteral stenosis, Renal insufficiency, Proteinuria, Sinusitis, Epi... |
ORPHA:900 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Dyspnea, Mitral valve prolapse, Aortic root aneurysm, Atrial sep... |
ORPHA:230851 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Aortic... |
ORPHA:464311 |
Endocrine-Cerebroosteodysplasia |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Median cleft palat... |
OMIM:612651 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cryptorchidism, Cleft palate, Anal ... |
OMIM:236670 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Ventriculomegaly, Leukodystrophy |
ORPHA:370997 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, High palate |
ORPHA:2720 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Micrognathia |
ORPHA:1915 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Hypoplasia of the ... |
OMIM:274000 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Neonatal asphyxia, Hypoplasia of teeth |
ORPHA:2728 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis |
OMIM:612513 |
Dpagt1-Cdg |
|
Failure to thrive, CNS hypomyelination |
ORPHA:86309 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Abnormal renal morphology, Ventricular septal defect, Hydronephrosis |
ORPHA:1655 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... |
ORPHA:276280 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp... |
ORPHA:217093 |
Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus |
ORPHA:65285 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Horseshoe kidn... |
ORPHA:2092 |
Fanconi Anemia, Complementation Group L |
|
Delayed CNS myelination, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft pala... |
OMIM:614083 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Hydrocephalus, Myelomeningocele, Cleft palate, Gl... |
ORPHA:90652 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Agenesis of corpus callosum, Tracheoesophageal fistula |
ORPHA:268249 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy, Delayed CNS myelination |
OMIM:616084 |
Hengel-Maroofian-Schols Syndrome |
|
Abnormal CNS myelination, Bicuspid aortic valve |
OMIM:619641 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Dyspnea, Emphysema, Pneumothorax, Chylopericardium, Hemat... |
ORPHA:538 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Malar flatte... |
OMIM:616364 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, 11 pairs of ribs, Bicuspid aortic valve, Rhizomelia, Cardiomegaly, Micrognathi... |
OMIM:245600 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Pulmonary arterial hyperten... |
ORPHA:314585 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Micrognathia |
ORPHA:363528 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, High palate, Dysphagia, Failure to thrive, Agenesis of corpus... |
ORPHA:58 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Pericardial effusion, Pancreatic cysts, Dyspnea, Multiple renal cysts, Cough, Pleural ... |
ORPHA:464329 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Respiratory insufficiency |
OMIM:618975 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus, High palate |
OMIM:620351 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... |
ORPHA:280633 |
8P11.2 Deletion Syndrome |
|
Micrognathia, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse, Atrial septal defect |
ORPHA:251066 |
Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... |
ORPHA:97214 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst |
OMIM:602579 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Respiratory distress, Pneumothorax, Renal hypoplasia, Respiratory fail... |
ORPHA:3404 |
Noonan Syndrome 13 |
|
Atrial septal defect, Micrognathia, Mitral valve prolapse |
OMIM:619087 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia |
ORPHA:25 |
Mohr Syndrome |
|
Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue |
OMIM:252100 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Malabsorption, Hydrocephalus, Abnormal aortic valve morphology, ... |
ORPHA:579 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Campomelic Dysplasia |
|
Tracheomalacia, Tracheobronchomalacia, Hydronephrosis, Respiratory insufficiency |
ORPHA:140 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Shortening of all distal phalanges of the fingers, Peripheral pulmonary art... |
OMIM:614749 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... |
OMIM:617107 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Hereditary Late-Onset Parkinson Disease |
|
Gliosis, Dysphagia, Weight loss |
ORPHA:411602 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Aortic... |
ORPHA:464306 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Xeroderma Pigmentosum, Complementation Group B |
|
Abnormal CNS myelination, Ventriculomegaly |
OMIM:610651 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Severe demyelination of the white matter, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart m... |
ORPHA:79282 |
Holoprosencephaly |
|
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... |
ORPHA:2162 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology, Abnormal c... |
ORPHA:217260 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Pancreatic cysts, Dyspnea, Renal cyst, Cough, Abnormal bladder m... |
ORPHA:284 |
Cerebrotendinous Xanthomatosis |
|
Myelopathy, Hypermyelinated retinal nerve fibers, Abnormal atrial septum morphology, Gliosis, CNS... |
ORPHA:909 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal f... |
OMIM:227646 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, Atrial ... |
OMIM:603467 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Hepatic steatosis, Ventricular septal defect, Short palm |
ORPHA:254346 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Small h... |
OMIM:610759 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:618688 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, High, narrow palate, Mitral valve prolapse, Abnormal... |
ORPHA:2462 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lun... |
OMIM:236680 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
OMIM:616368 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Al Kaissi Syndrome |
|
Atrial septal defect, Small hand |
OMIM:617694 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Pyloric steno... |
OMIM:602535 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Aortic valve... |
ORPHA:401973 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Submucous cleft hard palate, High palate, Gastroesophageal reflux, Pulmonic stenos... |
OMIM:115150 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Recurrent respiratory infections, Retrognathia, Short foot |
OMIM:619758 |
Leopard Syndrome 1 |
|
Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse, Pulmonic stenosis, S... |
OMIM:151100 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Malar flattening, Abnormal mitral valve morphology, Short distal phalanx of... |
ORPHA:1292 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Narrow palate, Cleft palate, High palate, Dandy-Walker malformation... |
OMIM:605627 |
Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Micrognathia, Carious teeth, Coarctatio... |
OMIM:244450 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Short thumb, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus |
OMIM:207410 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:505248 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Cardiac fibroma, Ventriculomegaly, Large for gestational age |
ORPHA:77301 |
Monosomy 13Q34 |
|
Epistaxis, Micrognathia, Pulmonic stenosis, Common atrium, Hepatic steatosis |
ORPHA:96168 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Micrognathia |
OMIM:609625 |
Robinow Syndrome |
|
Ventricular septal defect, Micrognathia, Persistence of primary teeth, Missing ribs, Mesomelic ar... |
ORPHA:97360 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Delayed myelination, Decreased thalamic volume, Hypoglycorrhachia |
ORPHA:168577 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, Abnormal CNS myelination, Increased CSF protein concentration |
ORPHA:206443 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, R... |
ORPHA:1465 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma... |
OMIM:615287 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal left ventricle morphology, Neph... |
ORPHA:264450 |
Renal Nutcracker Syndrome |
|
Vulval varicose vein, Varicose veins, Renal artery stenosis, Anemia, Dilatation of mesenteric artery |
ORPHA:71273 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Tracheomalacia, Enuresis, Atri... |
ORPHA:96121 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Rhizomelia, Cholangitis, Micrognathia, Splenomegaly, Patent ductus arteriosus, Recu... |
OMIM:613610 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Delayed CNS myelination, Gliosis, Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:124000 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect, Short ribs, Hypoplastic vertebral bodies, Mesomelic/rhizomelic limb shortening |
ORPHA:2347 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Gliosis |
ORPHA:3240 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Aicardi-Goutieres Syndrome 1 |
|
Multiple gastric polyps, Increased CSF interferon alpha, CSF lymphocytic pleiocytosis, Chronic CS... |
OMIM:225750 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis |
ORPHA:541423 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis, Congenital megaureter, A... |
ORPHA:369837 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Cleft p... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Cleft p... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Cleft p... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Cleft p... |
ORPHA:93924 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Short ribs, Atrial septal defect, Common atrium |
OMIM:225500 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Cardiomyopathy, Nephrotic syndrome, ... |
OMIM:212065 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Rhizomelia, Micrognathia, Pulmonary artery stenosis, Fi... |
OMIM:258315 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cryptorchidism, Colpocephaly, High palate, Gastroesophageal reflux, Failure to thrive |
OMIM:620083 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronephrosis |
OMIM:618653 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Stillbirth, Ventriculomegaly |
OMIM:259720 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Increased CSF glycine concentration, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Leukody... |
OMIM:614299 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Failure to thrive, Agenesis... |
ORPHA:137675 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Cardiomyopathy, Hydrocephalus, Abnormal heart valve morphology |
OMIM:253220 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Hydronephrosis, Mitral valve prolapse |
ORPHA:444072 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Short palm, Atrial septal defect, Ma... |
ORPHA:261330 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Hydrocephalus, Small for gestational age, Decreased growth hormone responses to g... |
OMIM:101800 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:1507 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
Medulloblastoma |
|
Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Left ventricular hypertrophy, Pulmonary art... |
OMIM:615474 |
Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination |
OMIM:611584 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Hydronephrosis |
ORPHA:254528 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial... |
ORPHA:565 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Hepatosplenomegaly |
ORPHA:397709 |
Parkinson Disease 1, Autosomal Dominant |
|
Gliosis, Dysphagia |
OMIM:168601 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth |
OMIM:617667 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
Hurler Syndrome |
|
Abnormal heart valve morphology, Hydrocephalus, Macroglossia, Cardiomyopathy, Endocardial fibroel... |
ORPHA:93473 |
Full Nf2-Related Schwannomatosis |
|
Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Ependymoma, Dysphagia |
ORPHA:637 |
Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon, Leukodystrophy |
OMIM:277580 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Jejunal atresia, Ileal atresia, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Holopro... |
OMIM:618820 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... |
OMIM:109400 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Ventricular septal defect, Renal agenesis, Renal cyst, Chyloth... |
OMIM:229850 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... |
ORPHA:99226 |
Turner Syndrome |
|
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... |
ORPHA:881 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Aspiration, Multiple renal cysts, Respiratory dis... |
OMIM:618733 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Increased CSF protein concentration, Gliosis, Astrocytosis |
OMIM:203700 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, Hig... |
OMIM:182212 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Transient ischemic attack, Patent ductus arteriosus, Coarctatio... |
OMIM:600268 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Achalasia, Decreased response to growth hormone stimulation test |
OMIM:616007 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen o... |
OMIM:620244 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Neoplasm of the liver |
ORPHA:1454 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Small hand, Fibular hypoplasia, Short foot, Short ribs, Short p... |
OMIM:228520 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Hydroce... |
OMIM:270400 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Pneumothorax, Ascending tubular aorta aneurysm, Atrial septal defect, Hy... |
OMIM:617403 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Hydronephrosis, Unilateral renal agenesis, Single ventricle |
OMIM:308050 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Oligomeganephronia |
|
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Micrognathia |
ORPHA:2260 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, High palate, Aortic valve stenosis, Failure to thrive, Dandy-Walke... |
OMIM:300960 |
Cockayne Syndrome |
|
Cachexia, Cerebral dysmyelination, Cryptorchidism, Gastroesophageal reflux, Gliosis, Patchy demye... |
ORPHA:191 |
Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Aplastic clavicle, Short thumb, Abnormality of the spleen, Abnormal lung lobation, ... |
ORPHA:2538 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Denta... |
OMIM:616894 |
Hypoplasminogenemia |
|
Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation |
ORPHA:722 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy, Leukodystrophy |
ORPHA:401866 |
Distal Deletion 6P |
|
Micrognathia, Short foot, Short palm, Atrial septal defect, Malar flattening |
ORPHA:96125 |
H Syndrome |
|
Azoospermia, Hydrocephalus, Decreased testicular size, Malabsorption |
ORPHA:168569 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Absent thumb, Shor... |
OMIM:105650 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Respirato... |
OMIM:208500 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Short humerus, Neonatal respiratory distress, Ventricular sep... |
OMIM:117650 |
Trisomy 18 |
|
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Abnormality of the upper urinary... |
ORPHA:3380 |
Multiple Sclerosis, Susceptibility To |
|
CNS demyelination |
OMIM:126200 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:363958 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Cerebral hypomyelination, Gastroesophageal reflux, Dysphagia |
ORPHA:447997 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Renal cyst, Nephropathy, Neonatal breathing dysregulation |
OMIM:213300 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Failure to thrive |
OMIM:277400 |
Myhre Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Pericardial effusion, Hypoplasia of the maxilla... |
OMIM:139210 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Asthma, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Carious teeth, Respiratory distress |
ORPHA:1051 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Dysphagia |
ORPHA:3205 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Pneumonia, Abnormal renal mo... |
OMIM:122470 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Leukodystrophy |
OMIM:619224 |
Raine Syndrome |
|
Protruding tongue, Hydrocephalus, Cleft palate, High palate, Neonatal death |
OMIM:259775 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec... |
ORPHA:373 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the ulna, Short metacarpal, Micrognathia, Aplasia/hypoplasia of the humerus, Short ... |
OMIM:609945 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis |
ORPHA:847 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Malabsorption, Hydrocephalus, Macroglossia, Abnormal aortic valve morphology, Dysph... |
ORPHA:581 |
Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Cryptorchidism, Hydrocephalus, Cleft palate, Ventriculomegaly |
ORPHA:1272 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Colpocephaly, Patent foramen ovale, Delayed myelination |
ORPHA:477993 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormality of the temporomandibular joint, Abnormal heart valve morpholog... |
ORPHA:536471 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic ... |
OMIM:610505 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia... |
OMIM:600373 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:352665 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Mitral valve prolapse, Tricuspid valve prolapse, Pulmonary arterial hypertensi... |
OMIM:309350 |
Sjogren-Larsson Syndrome |
|
CNS demyelination |
OMIM:270200 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Neurofibromatosis, Type I |
|
Astrocytoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Optic nerve glioma |
OMIM:162200 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Short phalanx of the 5th toe... |
OMIM:614609 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Microglossia, Cleft palate |
OMIM:260660 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d... |
OMIM:610188 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Dubowitz Syndrome |
|
Anal stenosis, Malabsorption, Cryptorchidism, Hydrocephalus, Rectal prolapse, Submucous cleft har... |
ORPHA:235 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Retrognathia, Short middle phalanx of finge... |
OMIM:301030 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia... |
OMIM:268300 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Gastroesophageal reflux, Ventriculomegaly |
OMIM:618188 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Abnormal heart morphology, Total anomalous pulmonary veno... |
ORPHA:487796 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Cardiac rhabdomyoma |
OMIM:191100 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Patent ductus arterios... |
ORPHA:3047 |
Costello Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Mitral valve prolapse, Macroglossia, ... |
OMIM:218040 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, High palate, Ventriculomegaly, Large for gestational age |
OMIM:617011 |
Marchiafava-Bignami Disease |
|
CNS demyelination, Increased CSF protein concentration |
ORPHA:221074 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnorm... |
ORPHA:363700 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasi... |
ORPHA:798 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Renal cyst, Respiratory failure, Hyperechogenic kidneys, Chronic sinusitis |
OMIM:615636 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Tracheomalacia, Short metatarsal, Atrial septal defe... |
OMIM:150250 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Short sternum, Short ribs, Atrial septal defect, Short tibia, Short 1st metacarpal,... |
OMIM:620076 |
3Mc Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Hydronephrosis |
OMIM:257920 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Micrognathia, Biliary hyperplasia, Cough, Atrial septal defect, Elevated hepatic ir... |
OMIM:619991 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... |
OMIM:613254 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
Abetalipoproteinemia |
|
CNS demyelination, Fat malabsorption, Peripheral demyelination |
OMIM:200100 |
Leukodystrophy, Hypomyelinating, 4 |
|
Leukodystrophy |
OMIM:612233 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100078 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormal lef... |
ORPHA:2729 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypoplastic left heart, Aortic valve ste... |
ORPHA:2308 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed CNS myelination, Failure to thrive, Leukodystrophy |
OMIM:616881 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,... |
ORPHA:2556 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Ventricular septal defect, Overweight, High, narrow palate, Hydrocephalus,... |
OMIM:619475 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Immunodeficiency 23 |
|
Abnormal CNS myelination, Failure to thrive, High palate, Esophageal stricture |
OMIM:615816 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... |
ORPHA:438213 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Multicystic kidney dysplasia, Ventricular septal defect, Tracheoma... |
ORPHA:1393 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Asthma, Stridor, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:616973 |
Canavan Disease |
|
CNS demyelination, Increased CSF N-acetylaspartic acid concentration |
OMIM:271900 |
Occipital Horn Syndrome |
|
Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Abnormal esophagus... |
ORPHA:198 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Abnormal heart morphology |
ORPHA:137667 |
2Q37 Microdeletion Syndrome |
|
Tracheomalacia, Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Prominent superficial veins, Hypoplasia of the maxilla, Pneumothorax, Mitr... |
OMIM:617402 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Abnormal heart morpholog... |
OMIM:114290 |
Mucopolysaccharidosis, Type Vi |
|
Hydrocephalus, Macroglossia, Cardiomyopathy, Cervical myelopathy, Mitral stenosis |
OMIM:253200 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, ... |
OMIM:612289 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology |
ORPHA:1826 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Atrial septal defect, Micropenis, Hydronephrosis |
OMIM:269150 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Hydrocephalus, Cleft palate, Aortic valve sten... |
ORPHA:955 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent urinary tract infections, Neonatal respiratory distress, Ventricu... |
OMIM:616268 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, Bronchiectasis, Hydronephrosis |
OMIM:251260 |
6Q Terminal Deletion Syndrome |
|
High, narrow palate, Colpocephaly, Failure to thrive, Obesity |
ORPHA:75857 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Velopharyng... |
OMIM:154400 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Hydrocephalus, Abdominal obesity, Decreased testicular... |
OMIM:619321 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Asthma, Small hand, Fibular hy... |
ORPHA:444077 |
De Sanctis-Cacchione Syndrome |
|
Decreased CSF 5-hydroxyindolacetic acid concentration, Bilateral cryptorchidism, Ventriculomegaly... |
OMIM:278800 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Mesomelia, Patent foramen ovale |
OMIM:613457 |
Degcags Syndrome |
|
Micrognathia, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Short thumb, Patent ductu... |
OMIM:619488 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Micrognathia, Short foot, Short palm, Atrial septal defect |
ORPHA:251014 |
Fetal Akinesia Deformation Sequence 1 |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, High, narrow palate, Cleft palate, Stil... |
OMIM:208150 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Recurrent upper respiratory tract infections, Bronchiecta... |
ORPHA:391487 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Macroglossia, High palate, Tricuspid va... |
ORPHA:261337 |
Secondary Syringomyelia |
|
CNS demyelination, Pseudobulbar paralysis, Increased CSF protein concentration, CSF pleocytosis |
ORPHA:99857 |
Leukodystrophy, Hypomyelinating, 9 |
|
Pseudobulbar paralysis, Leukodystrophy |
OMIM:616140 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
Cockayne Syndrome A |
|
Failure to thrive, Abnormal peripheral myelination, Cryptorchidism, Normal pressure hydrocephalus... |
OMIM:216400 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Patent ductus arteriosus, Dental maloccl... |
OMIM:618371 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Shortening of all distal phalanges of the fingers |
OMIM:614207 |
Cockayne Syndrome B |
|
Failure to thrive, Small for gestational age, Abnormal peripheral myelination, Cryptorchidism, No... |
OMIM:133540 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Small for gestational age, Cryptorchidism, Hydrocephalus, Malrotation ... |
OMIM:194190 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Pulmonary arterial hype... |
ORPHA:2785 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Coarct... |
ORPHA:124 |
Coccidioidomycosis |
|
Pericarditis, Abnormal sperm morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocyt... |
ORPHA:228123 |
Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... |
ORPHA:355 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Recurrent sinusitis, Atrial se... |
OMIM:213980 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Pyruvate Carboxylase Deficiency |
|
Leukodystrophy |
OMIM:266150 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Abnormal mi... |
ORPHA:576 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Hydrocephalus, High, narrow palate, Submucous cleft hard palate, Cleft palate, Ag... |
ORPHA:2658 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Small for gestational age, Crypt... |
OMIM:107480 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Large for gestational age, High palate, Slender build, Ventriculomegaly |
ORPHA:457359 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Short thumb, Short toe, Atrial septal defect, Tracheobro... |
OMIM:613458 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd... |
ORPHA:261323 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pneumothorax, Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolapse, Atrial septal ... |
OMIM:601776 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Coarctati... |
OMIM:163950 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus, High palate, Mitral valve prolapse |
ORPHA:536467 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Hydrocephalus, High, narrow palat... |
ORPHA:95699 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Advanced ... |
ORPHA:769 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Respiratory insufficiency, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... |
OMIM:619522 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Short toe, Micrognathia |
OMIM:620072 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Jaundice, Dilated cardiomyopathy, Cholestasis, Biventricular hypertrophy, Pleural e... |
OMIM:619573 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Vici Syndrome |
|
Recurrent respiratory infections, Micrognathia, Dilated cardiomyopathy, Cardiomyopathy, Atrial se... |
OMIM:242840 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short metacarpal, Short fourth metatarsal, Patent ductus arteriosus, Short femoral neck, Short pa... |
ORPHA:457395 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Asthma, Pancreatitis |
OMIM:619471 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Cleft palate, High palate, Failure to thrive |
ORPHA:1106 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, CNS demyelination, Diffuse demyelination of the cerebral white matter, Dysphagia |
ORPHA:139396 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
Acute Disseminated Encephalomyelitis |
|
CNS demyelination, Increased CSF protein concentration, Abnormal thalamic MRI signal intensity, C... |
ORPHA:83597 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Recurrent respiratory infections, Micrognathia, Carious teeth, Prolonged neonatal ja... |
OMIM:620186 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Small hand, Short foot |
ORPHA:398069 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Ctcf-Related Neurodevelopmental Disorder |
|
Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hypertension, Prolonged neonat... |
ORPHA:363611 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Bicusp... |
ORPHA:709 |
Juvenile Polyposis Of Infancy |
|
Atrial septal defect, Midclavicular hypoplasia, Patent ductus arteriosus, Abnormal heart morphology |
ORPHA:79076 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Atrial septal defect, Aortic root aneurysm |
OMIM:618891 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Mandibular prognathia, Microretrognathia, Ventricular septal defect, Pulmonary artery stenosis, D... |
ORPHA:459070 |
Supranuclear Palsy, Progressive, 1 |
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Gliosis, Astrocytosis, Dysphagia |
OMIM:601104 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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CNS demyelination, Failure to thrive, Increased CSF protein concentration, CSF pleocytosis |
OMIM:603553 |
Von Hippel-Lindau Disease |
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Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c... |
ORPHA:892 |
Adult Krabbe Disease |
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CNS demyelination, Increased CSF protein concentration, Peripheral demyelination |
ORPHA:206448 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... |
OMIM:266920 |
Faciocardiomelic Syndrome |
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Hyperplasia of the maxilla, Common atrium, Dental malocclusion, Micrognathia |
OMIM:612731 |
Zttk Syndrome |
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Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Hypoplasia of the maxill... |
OMIM:617140 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Ventricular septal defect, Hypospadias, Renal cyst, Vesicoureteral reflux, Patent foramen ovale |
OMIM:616975 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Respirat... |
ORPHA:2636 |
Osteogenesis Imperfecta |
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Abnormal endocardium morphology, Intestinal obstruction, Small for gestational age, Hydrocephalus... |
ORPHA:666 |
Cryptococcosis |
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Hydrocephalus |
ORPHA:1546 |
Oculodentodigital Dysplasia |
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Carious teeth, Taurodontia, Atrial septal defect, Enamel hypoplasia, Short middle phalanx of the ... |
OMIM:164200 |
Fraser Syndrome 1 |
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Encephalocele, Abnormal small intestine morphology, Cryptorchidism, Hydrocephalus, Myelomeningoce... |
OMIM:219000 |
Genitopatellar Syndrome |
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Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small bowel, Anteriorly ... |
OMIM:606170 |
Occipital Horn Syndrome |
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Hydronephrosis, Bladder diverticulum, Ureteral obstruction |
OMIM:304150 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Delayed eruption of teeth, Short femur, Micrognathia, Patent ductus arteriosus, Patent foramen ovale |
OMIM:300990 |
Restrictive Dermopathy 1 |
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Natal tooth, Micrognathia, Patent ductus arteriosus, Temporomandibular joint ankylosis, Short cla... |
OMIM:275210 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... |
OMIM:271640 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
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Hypertrophic cardiomyopathy, Leukodystrophy |
OMIM:614462 |
Wiedemann-Rautenstrauch Syndrome |
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Small for gestational age, Secundum atrial septal defect, Sudanophilic leukodystrophy, Hydrocepha... |
OMIM:264090 |
Aicardi-Goutières Syndrome |
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Ventriculomegaly, Cardiomegaly, Chronic CSF lymphocytosis, Increased CSF interferon alpha, Leukod... |
ORPHA:51 |
Atelosteogenesis Type I |
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Multiple renal cysts |
ORPHA:1190 |
Baller-Gerold Syndrome |
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Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed anus, Perineal fistula,... |
OMIM:218600 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Partial anomalous pulmonary venous return, Small hand, Short foot, Atr... |
OMIM:301044 |
Isolated Complex I Deficiency |
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Hypertrophic cardiomyopathy, Failure to thrive, Leukodystrophy, Increased CSF lactate |
ORPHA:2609 |
Pancreatic And Cerebellar Agenesis |
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Secundum atrial septal defect, Pancreatic hypoplasia, Apnea, Pancreatic aplasia |
OMIM:609069 |
Combined Oxidative Phosphorylation Deficiency 4 |
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Leukodystrophy |
OMIM:610678 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Atrial septal defect, Central apnea, Hyperventilation |
ORPHA:522077 |
Knobloch Syndrome 1 |
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Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Supranuclear Palsy, Progressive, 2 |
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Gliosis, Dysphagia |
OMIM:609454 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Renal hypoplasia, Atrial sep... |
OMIM:135900 |
Acrocephalopolydactylous Dysplasia |
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Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Split Cord Malformation |
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Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Attenuated Familial Adenomatous Polyposis |
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Multiple renal cysts |
ORPHA:220460 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... |
ORPHA:466791 |
Exstrophy-Epispadias Complex |
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Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Cryptorchidism, Hydroceph... |
ORPHA:322 |
Frontometaphyseal Dysplasia 2 |
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Short metacarpal, Bicuspid aortic valve, Patent ductus arteriosus, Short metatarsal, Stridor, Pul... |
OMIM:617137 |
Autosomal Recessive Malignant Osteopetrosis |
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Hydrocephalus, Abnormal pulmonary valve morphology |
ORPHA:667 |
Monosomy 22Q13.3 |
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Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Leukodystrophy, Progressive, Early Childhood-Onset |
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Leukodystrophy |
OMIM:617762 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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11 pairs of ribs, Short metacarpal, Rhizomelia, Myocarditis, Short toe, Short ribs, Short finger,... |
OMIM:250220 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie... |
ORPHA:93271 |
Neurofibromatosis Type 1 |
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Neoplasm of the gastrointestinal tract, Cryptorchidism, Hydrocephalus, Astrocytoma |
ORPHA:636 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Abnormality of... |
ORPHA:821 |
Otopalatodigital Syndrome, Type Ii |
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Short metacarpal, Short hallux, Micrognathia, Short thumb, Short metatarsal, Respiratory insuffic... |
OMIM:304120 |
Hypermobile Ehlers-Danlos Syndrome |
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Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Ascending t... |
ORPHA:285 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Macroglossia, Recurrent gastroenteritis |
ORPHA:309282 |
Oculocerebrorenal Syndrome Of Lowe |
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Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Bartsocas-Papas Syndrome 1 |
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Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Short thumb, Abs... |
OMIM:263650 |
Focal Dermal Hypoplasia |
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Intestinal malrotation, Hiatus hernia, Cryptorchidism, Hydrocephalus, Myelomeningocele, Cleft pal... |
OMIM:305600 |
Bickerstaff Brainstem Encephalitis |
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CSF pleocytosis, Abnormal thalamic MRI signal intensity, Acute demyelinating polyneuropathy, Recu... |
ORPHA:79138 |
Coffin-Siris Syndrome 12 |
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Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Tetral... |
OMIM:619325 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Asthma, Recurrent pneumonia, Ventricular septal defect, Hydronephrosis |
OMIM:620330 |
Peters-Plus Syndrome |
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Ventricular septal defect, Cryptorchidism, Hydrocephalus, Cleft palate, Anteriorly placed anus, P... |
OMIM:261540 |
Trisomy 10P |
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Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology |
ORPHA:171929 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress, Cyst of the ductus choledochus, Hydronephrosis, Cardiomyopathy, Atrial sept... |
ORPHA:480880 |
Spondylocarpotarsal Synostosis Syndrome |
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Restrictive ventilatory defect, Renal cyst |
OMIM:272460 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Recurrent gastroenteritis, Failure to thrive in infancy, Leukodystrophy |
ORPHA:79124 |
Spondyloocular Syndrome |
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Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Mesomelia-Synostoses Syndrome |
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Hydronephrosis |
OMIM:600383 |
Glycogen Storage Disease Ii |
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Macroglossia, Abnormal CNS myelination, Cardiomegaly |
OMIM:232300 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Concentric hypertrophic cardiomyopathy, Increased CSF lactate, Leukodystrophy, Hypertrophic cardi... |
OMIM:252010 |
Peroxisome Biogenesis Disorder 6B |
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Leukodystrophy |
OMIM:614871 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... |
ORPHA:857 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Anterior pituitary hypoplasia, Cryptorchidism, Mild fetal ventriculo... |
OMIM:619841 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Hypercalciuria, Congenital m... |
ORPHA:116 |
Trigeminal Neuralgia |
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CNS demyelination, Peripheral demyelination |
ORPHA:221091 |
Pallister-Hall Syndrome |
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Microretrognathia, Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Abnormal lun... |
ORPHA:672 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Increased CSF protein concentration, Leukodystrophy |
ORPHA:309256 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Hepatomegaly, Mitral valve calcification, Micrognathia, Short femoral neck, Macrovesicular hepati... |
OMIM:619127 |
Metachromatic Leukodystrophy, Juvenile Form |
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Increased CSF protein concentration, Leukodystrophy |
ORPHA:309263 |
Metachromatic Leukodystrophy, Adult Form |
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Increased CSF protein concentration, Leukodystrophy, Neoplasm of the gallbladder |
ORPHA:309271 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Bilateral cryptorchidism, Hydrocephalus |
ORPHA:3042 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Atrial septal defect, Pleural effusion, Chylothorax |
ORPHA:2526 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
Robinow Syndrome, Autosomal Dominant 1 |
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Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract |
ORPHA:2273 |
Lacrimoauriculodentodigital Syndrome |
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Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
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Patent foramen ovale |
OMIM:225250 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Leukodystrophy |
OMIM:612199 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Patent foramen ovale, Micrognathia |
OMIM:613884 |
Cutis Marmorata Telangiectatica Congenita |
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Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Yunis-Varon Syndrome |
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Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia, Patent foramen ovale, Absent... |
OMIM:216340 |
Osteogenesis Imperfecta, Type Vii |
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Hydronephrosis |
OMIM:610682 |
Neurofibromatosis-Noonan Syndrome |
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Secundum atrial septal defect, Malar flattening, Pulmonic stenosis |
OMIM:601321 |
Acute Transverse Myelitis |
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CSF pleocytosis, Paralytic ileus, Hypoglycorrhachia, CNS demyelination, Increased CSF protein con... |
ORPHA:139417 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... |
OMIM:613355 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Micromelia, Micrognathia, Small hand, Short... |
ORPHA:199 |
Diphallia |
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Atrial septal defect, Absent thumb, Abnormal heart morphology |
ORPHA:227 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Renal cyst |
ORPHA:495875 |
Pallister-Killian Syndrome |
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11 pairs of ribs, Delayed eruption of teeth, Ventricular septal defect, Rhizomelia, Mesomelic/rhi... |
OMIM:601803 |
Niemann-Pick Disease Type C |
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Demyelinating peripheral neuropathy, Abnormal CNS myelination, Leukodystrophy, Dysphagia |
ORPHA:646 |
Proteus Syndrome |
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Enlarged polycystic ovaries, Long penis, Renal cyst, Pulmonary embolism |
ORPHA:744 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Atrial sept... |
OMIM:308205 |
C Syndrome |
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Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hydrocephalus |
OMIM:175780 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia |
ORPHA:2052 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Secundum atrial septal defect, Subarterial ventricular septal defect, Recur... |
ORPHA:99646 |
Norrie Disease |
|
Venous insufficiency |
ORPHA:649 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
Pmm2-Cdg |
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Respiratory distress, Pericarditis, Proteinuria, Pericardial effusion, Nephrotic syndrome, Multip... |
ORPHA:79318 |