| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... |
OMIM:605376 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Cough, Situs inversus totalis, Dextrocardia, Abdominal situs inversus, Chronic sinusitis, Decreas... |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... |
OMIM:618300 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Situs inversus totalis, Dextrocardia, Recurrent sinusit... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Ciliary dy... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615451 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... |
OMIM:615067 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615504 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Situs inversus totalis, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis... |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615505 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... |
OMIM:231060 |
| Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, ... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Neonatal respiratory distress, Wheezing, Situs inversus totalis, ... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 17 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Ciliary dyskine... |
OMIM:614679 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... |
OMIM:270100 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Bronchiect... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Recurrent lower respiratory tract inf... |
OMIM:618254 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricula... |
OMIM:306955 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... |
OMIM:615415 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
| Ciliary Dyskinesia, Primary, 9 |
|
Cough, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Ciliary ... |
OMIM:612444 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... |
OMIM:617577 |
| Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615444 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... |
ORPHA:244 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Recurrent lower respirato... |
OMIM:618699 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:614935 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cilia... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 38 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Neonatal respiratory distress, Br... |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis |
OMIM:620032 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Cough, Situs inversus totalis, Wheezing, Chronic sinusitis, Recurrent pneumon... |
OMIM:613808 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Ciliary Dyskinesia, Primary, 35 |
|
Cough, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent res... |
OMIM:617092 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... |
ORPHA:210122 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Hypoglossia With Situs Inversus |
|
High palate, Situs inversus totalis, Microglossia, Polysplenia, Asplenia |
OMIM:612776 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Renal dysplasia |
OMIM:615985 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... |
ORPHA:1727 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Catel-Manzke Syndrome |
|
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:616145 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Situs inversus totalis, Dextrocardia, Missing ribs, Restr... |
OMIM:613686 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:3304 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... |
OMIM:208540 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
| Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1913 |
| Nephronophthisis 2 |
|
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... |
OMIM:602088 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism, Transposition ... |
OMIM:314390 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis, Chron... |
OMIM:619608 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the spleen,... |
ORPHA:1666 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... |
ORPHA:3426 |
| Diabetic Embryopathy |
|
Cleft palate, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal defect, Abnorm... |
ORPHA:1926 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Mandibula... |
OMIM:609008 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Decreased body weight, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Delayed CN... |
OMIM:617800 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Immotile cilia, Bronchiectasis |
OMIM:616481 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Micrognathia, Abdominal situs inversus, Ventric... |
OMIM:619123 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypopl... |
OMIM:617022 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring |
OMIM:603387 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... |
OMIM:601186 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus |
OMIM:129850 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy |
OMIM:249270 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... |
OMIM:613095 |
| Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Gastroesophageal reflux, Coarc... |
OMIM:600987 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Tracheomalacia, Micrognathia, Situs inversus... |
OMIM:202650 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... |
OMIM:600001 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... |
OMIM:619910 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Accessory... |
OMIM:618280 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Chronic rhinitis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskin... |
OMIM:244400 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic ki... |
ORPHA:1909 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Gastroesophageal reflux, Intestinal mal... |
OMIM:156810 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections |
OMIM:106700 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
| Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... |
OMIM:615294 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Dextrocardia, Anal atresia, Patent ductus arteriosus |
ORPHA:2863 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Colonic Atresia |
|
Abnormality of mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... |
OMIM:192430 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Hypoxemia, Micrognathia, Tachypnea, Dextrocardia, P... |
ORPHA:2257 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis, Hydroureter, Hydronephrosis |
OMIM:264140 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... |
OMIM:220210 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:600348 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Cholestasis, Patent ductus arteriosus, Protein-losing ent... |
OMIM:608104 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, High palate, Transposition of the great arteries, Perimembranous ventricular s... |
OMIM:617877 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale, Macroglossia |
OMIM:616789 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defec... |
ORPHA:1908 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Gliosis, Gastroesop... |
ORPHA:79243 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Stroke, Muscular ventricular septal... |
OMIM:115197 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... |
ORPHA:95430 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, High palate |
OMIM:619995 |
| Mosaic Trisomy 9 |
|
High palate, Atrial septal defect, Cleft palate, Abnormal liver lobulation, Intestinal malrotatio... |
ORPHA:99776 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Gastroesophageal reflux, High, narrow palate |
OMIM:616920 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Cerebral hypomyelination, CNS hypomyelination, Ventriculomegaly |
OMIM:601170 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... |
ORPHA:2255 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Failure to thrive, Colitis, Cerebral hypomyelination, Inflammation of the larg... |
OMIM:608809 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
| Pierre Robin Syndrome |
|
Neonatal respiratory distress, Cor pulmonale, Micrognathia, Upper airway obstruction |
OMIM:261800 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Ciliary dyskinesia, Neonatal respirato... |
OMIM:612649 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Abnormal tricuspid valve m... |
ORPHA:1759 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... |
ORPHA:251071 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Orofaciodigital Syndrome Xvii |
|
Decreased body weight, High, narrow palate, Tetralogy of Fallot, Ventriculomegaly, CNS hypomyelin... |
OMIM:617926 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia |
OMIM:615872 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, C... |
OMIM:267010 |
| Alg2-Cdg |
|
Lateral ventricle dilatation, Cerebral hypomyelination |
ORPHA:79326 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren... |
OMIM:615993 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... |
ORPHA:363444 |
| Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
| Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen |
ORPHA:89844 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Micrognathia |
OMIM:221950 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Gastroesopha... |
ORPHA:2306 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Patent ductus arteriosus, ... |
ORPHA:391641 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Mandibular aplasia, Respiratory distress |
ORPHA:990 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Bardet-Biedl Syndrome 17 |
|
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... |
OMIM:615994 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... |
OMIM:613426 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| Familial Visceral Myopathy |
|
Micrognathia, Abdominal situs inversus |
ORPHA:2604 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Thoracoabdominal Syndrome |
|
Cleft palate, Ectopia cordis, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of th... |
OMIM:313850 |
| Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Reduced respiratory ciliary beating freque... |
OMIM:617091 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Diffuse demyelination of the cerebral white matter |
ORPHA:77299 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Respiratory insufficiency, Ventricular septal defect, Respiratory failure, ... |
OMIM:253300 |
| Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Ververi-Brady Syndrome |
|
High palate, Transposition of the great arteries |
OMIM:617982 |
| Thakker-Donnai Syndrome |
|
Anal atresia, Tracheoesophageal fistula, Tetralogy of Fallot, Ventricular septal defect, Transpos... |
ORPHA:1780 |
| Ciliary Dyskinesia, Primary, 6 |
|
Recurrent sinusitis, Sinusitis, Ciliary dyskinesia, Abnormal ciliary motility |
OMIM:610852 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Gliosis, Diffuse demyelination of the cerebral white matter, Abnormal astrocyte morphology, Ventr... |
ORPHA:168486 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
CNS hypomyelination, Ventriculomegaly |
OMIM:615760 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Obesity, Dilated third ventricle, Delayed CNS myelination |
OMIM:617296 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia |
OMIM:242680 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Micrognathia, Abdominal situs inversus |
ORPHA:2062 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum, Meckel diverticulum |
OMIM:300864 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Carpenter Syndrome 1 |
|
High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal def... |
OMIM:201000 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
CNS hypomyelination, Gliosis, Delayed myelination, Small for gestational age |
OMIM:615095 |
| Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Lissencephaly 8 |
|
Cerebral hypomyelination, Occipital encephalocele, Ventriculomegaly |
OMIM:617255 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cleft palate, Ventricular septal defect, Absent gallbladder, Patent ductus ... |
OMIM:300712 |
| Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Stroke-like episode, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis |
OMIM:616726 |
| Hallermann-Streiff Syndrome |
|
Supernumerary tooth, Malar flattening, Short ribs, Small hand, Micrognathia, Tracheomalacia, Resp... |
ORPHA:2108 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... |
ORPHA:3405 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart |
ORPHA:3316 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Hydrocephalus |
ORPHA:26 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Ventricular septal defect, Renal cyst, Renal hypoplasia, Respiratory f... |
OMIM:228940 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system physiology, Immotile... |
OMIM:242670 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
High palate, Gliosis, Ventriculomegaly |
OMIM:612936 |
| Transaldolase Deficiency |
|
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertro... |
ORPHA:101028 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... |
OMIM:614300 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Immotile cilia, Bronchiectasis |
OMIM:618801 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... |
OMIM:217085 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| 16P13.2 Microdeletion Syndrome |
|
Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Dilated third ventricle, Ventriculomeg... |
ORPHA:500055 |
| Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Decreased body weight |
ORPHA:1672 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
| Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... |
ORPHA:99094 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Leukodystrophy, Delayed myelination, Ventriculomegaly |
OMIM:617613 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery... |
ORPHA:1166 |
| 1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Tetralogy of Fallot |
ORPHA:250994 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly, Abnormal heart morphology |
ORPHA:2185 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle... |
ORPHA:3078 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Hypoplastic left heart, Coarctation of aorta, Tetralo... |
ORPHA:2209 |
| Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus, Cleft palate |
OMIM:147770 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Delayed myelination, Failure to thrive in infancy |
ORPHA:284417 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Delayed myelination |
ORPHA:85290 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... |
OMIM:601612 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Hepatic failure, Elevated he... |
OMIM:614886 |
| Sotos Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Gastroesophageal reflux, M... |
OMIM:117550 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... |
ORPHA:980 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
| Sandestig-Stefanova Syndrome |
|
High palate, Perimembranous ventricular septal defect, Muscular ventricular septal defect |
OMIM:618804 |
| Mungan Syndrome |
|
Barrett esophagus, Pulmonic stenosis, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstructio... |
OMIM:611376 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Pulmonary artery hypoplasia, Anomalous origin of lef... |
ORPHA:2326 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cleft palate, Intracranial hemorrhage, Thrombocytopenia, Ventricular septal... |
ORPHA:163979 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Hydrocephalus, High, narrow palate, Leukodystrophy, Dilated third ventricle, H... |
OMIM:619575 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Anal atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal d... |
OMIM:264480 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Macrocytic anemia, Ventricular septal defect, D... |
OMIM:614294 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... |
OMIM:612946 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Dextrocardia, Coarctation of aorta, Atrioventricular canal defect |
OMIM:618929 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Delayed CNS myelination |
OMIM:619725 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Atrial septal defect, Cleft palate, Ventricular septal defect, Histiocytoid cardiom... |
OMIM:309801 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... |
ORPHA:1667 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
CNS hypomyelination, Delayed myelination, Ventriculomegaly |
OMIM:618367 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... |
OMIM:614034 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Cleft palate, Abnormal lung lobation, Ventricular septal defect, Abnormal ao... |
ORPHA:2516 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... |
ORPHA:449400 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Short Rib-Polydactyly Syndrome |
|
Cleft palate, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Hepatic fibrosis, Tr... |
ORPHA:1505 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Multicystic kidney dysplasia |
ORPHA:2111 |
| Slc35A2-Cdg |
|
Gastroesophageal reflux, Delayed myelination, Tetralogy of Fallot, Lateral ventricle dilatation, ... |
ORPHA:356961 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Failure to thrive, Gastroesophageal reflux, Colpocephaly, Dilated third ventricle, Lateral ventri... |
ORPHA:397715 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
High palate, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Dilated third ventricle, Large for gestational age, Lateral ventricle... |
ORPHA:544488 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Delayed CNS ... |
OMIM:619302 |
| Frontal Encephalocele |
|
Leukodystrophy, Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Gastroesophageal reflux, Coarctation of aorta, Elevated hepatic transaminase, Inter... |
ORPHA:17 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Atrial septal defect, Micrognathia, Short hallux, Short thumb... |
ORPHA:280 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Leukodystrophy, CNS hypomyelination, Failure to thrive |
OMIM:616494 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
| Chromosome 9P Deletion Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Ventricular septal defect,... |
OMIM:158170 |
| Noonan Syndrome 12 |
|
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus, Thrombocytop... |
OMIM:618624 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Malar flattening, Aplasia/Hypoplasia of the... |
ORPHA:52056 |
| Phaver Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia |
ORPHA:2876 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| Feingold Syndrome 1 |
|
Annular pancreas, High palate, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pat... |
OMIM:164280 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy |
ORPHA:3033 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Malan Overgrowth Syndrome |
|
High palate, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Patent ductus arteriosus, Ankyloglossia, Interru... |
ORPHA:250989 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Failure to thrive, CNS hypomyelination, Cerebral hypomyelination |
OMIM:300475 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Esophageal varix, Portal hypertension,... |
OMIM:616589 |
| Alg3-Cdg |
|
High palate, Decreased liver function, Macroglossia, Coarctation of the descending aortic arch, A... |
ORPHA:79321 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Hemimegalencephaly |
|
Gliosis, Ventriculomegaly |
ORPHA:99802 |
| Down Syndrome |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Macroglossia, Atrioventricular... |
OMIM:190685 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Cleft palate, Tetralogy of Fallot, Ventricular septal defec... |
OMIM:280000 |
| Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Gliosis, Delayed myelination, Small for gestational age, Ventriculomegaly, CNS... |
OMIM:214150 |
| Cach Syndrome |
|
Dysphagia, Lateral ventricle dilatation, Dysmyelinating leukodystrophy, T2 hypointense thalamus |
ORPHA:135 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis, CNS hypomyelination, Increased CSF lactate, Agenesis of corpus callosum |
OMIM:616239 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Severe demyelination of the white matter |
ORPHA:488635 |
| Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Anal atresia, Cleft palate, Splenomegaly, Intestinal malrotat... |
OMIM:249000 |
| Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... |
ORPHA:2059 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Delayed CNS myelination |
OMIM:300884 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Respiratory failure, Hydronephrosis |
OMIM:618240 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Aortic valve stenosis, Bicuspid aortic valve, Delayed CNS myelination |
OMIM:615599 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Persistence of hemoglobin ... |
OMIM:612561 |
| Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Conical incisor, Atrial septal defect, Atrioventricular canal def... |
ORPHA:289 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Hepatomegaly, Pulmonic stenosis, Leukopenia, Pulmonary artery atre... |
OMIM:301056 |
| Joubert Syndrome |
|
Situs inversus totalis, Hydrocephalus, Aganglionic megacolon, Encephalocele |
ORPHA:475 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
| Holoprosencephaly 5 |
|
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilob... |
OMIM:609637 |
| Facial Dysmorphism With Multiple Malformations |
|
Anal atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries... |
OMIM:227255 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Onion bulb formation, Basal lamina onion bulb formation, Decreased number of peripheral myelinate... |
OMIM:214400 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Delayed myelination, Hepatocellular carcinoma, Ventriculomegaly, CNS hypomyeli... |
ORPHA:88618 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination, Small for gestational age |
OMIM:618910 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Leukodystrophy, Failure to thrive, Delayed myelination |
OMIM:616881 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Ventriculomegaly |
OMIM:614946 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Morphologi... |
ORPHA:2847 |
| Glutamine Deficiency, Congenital |
|
Decreased CSF glutamine concentration, CNS hypomyelination, Neonatal death, Subependymal cysts |
OMIM:610015 |
| Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein, Diffuse demyelination of the cerebral white matter |
OMIM:203450 |
| Digeorge Syndrome |
|
Cholelithiasis, High palate, Gastroesophageal reflux, High, narrow palate, Cleft palate, Splenome... |
OMIM:188400 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ab... |
ORPHA:96092 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion |
OMIM:608776 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Dysphagia, Failure to... |
ORPHA:488627 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Gastroesophageal reflux, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
| Alg12-Cdg |
|
Gastroesophageal reflux, Muscular ventricular septal defect, Intestinal malrotation, B lymphocyto... |
ORPHA:79324 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... |
OMIM:253800 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Dilated third ventricle, Ventricular sep... |
ORPHA:464738 |
| Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Abnormal myelination, Occipital encephalocele |
ORPHA:352682 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, Increased CSF lactate, ... |
ORPHA:3008 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Aganglionic megacolon |
OMIM:304100 |
| Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Hypochromic microcytic anem... |
ORPHA:66634 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Micrognathia, Atrial septal defect, Malar flattening |
ORPHA:1388 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, CNS hypomyelination, Cerebral hypomyelination |
ORPHA:369939 |
| Lissencephaly, X-Linked, 2 |
|
High palate, Gliosis, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:300215 |
| Biemond Syndrome Type 2 |
|
Obesity, Hydrocephalus |
ORPHA:141333 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
| Encephalocraniocutaneous Lipomatosis |
|
