Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restri... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... |
OMIM:614874 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:616481 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615500 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 14 |
|
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... |
OMIM:613807 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... |
OMIM:612444 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia, Chronic sinu... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Decreased nasal nitric o... |
OMIM:618063 |
Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... |
ORPHA:1666 |
Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due t... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:612650 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... |
OMIM:608647 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent si... |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Asthma, Bronchiectasis, Respiratory insufficiency, Decreased nasal nitric... |
OMIM:616037 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric oxi... |
OMIM:615444 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Abnormal heart morphology, Atr... |
ORPHA:401935 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Ciliary ... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... |
OMIM:613808 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Ciliary Dyskinesia, Primary, 6 |
|
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis |
OMIM:610852 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias |
OMIM:615985 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Urethral atresia, Pulmona... |
OMIM:314390 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia |
OMIM:612776 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... |
ORPHA:2516 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,... |
OMIM:616589 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte... |
OMIM:601355 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Asplen... |
OMIM:619657 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia |
OMIM:616726 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tric... |
ORPHA:1759 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Neonatal death, Pe... |
OMIM:601186 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Pate... |
OMIM:267010 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Dextrocardia, Situs inversus totalis, Jaundice, Stage 5 chroni... |
OMIM:613095 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Cleft... |
ORPHA:1908 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Congenital alveola... |
OMIM:608978 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Neurogenic bladder, Vertebral artery hypoplasia, Dextrocardia, Unilateral vertebra... |
OMIM:613686 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas... |
OMIM:202650 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Patent ductus arteriosus, Midshaft hypospadias, High palate, Anal atresia |
ORPHA:2863 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal... |
OMIM:609029 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Cleft palate |
OMIM:611867 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... |
OMIM:615994 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent forame... |
OMIM:600001 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Renal hypoplasia, Cleft palate, Renal cyst, Truncus ar... |
OMIM:615583 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Situs inversus totalis, Abnormality of... |
ORPHA:991 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, In... |
ORPHA:99776 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal... |
ORPHA:96170 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... |
ORPHA:2257 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Intestinal malrotation, ... |
ORPHA:2538 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... |
ORPHA:289 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni... |
OMIM:617516 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Tracheoesophageal fistula, Ureteral agenesis, Conge... |
ORPHA:2437 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:614876 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Hypoplasia of penis, Microglossia |
ORPHA:990 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... |
OMIM:115197 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona... |
OMIM:615524 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Cleft palate, Coarc... |
ORPHA:2008 |
Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Aganglionic megacolon |
ORPHA:475 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palate,... |
OMIM:248700 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anter... |
ORPHA:2315 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Glossitis, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Pate... |
OMIM:277380 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Hepatomegaly, Pulmonary edema, Left atrial enlargement, Interst... |
ORPHA:75249 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Ventricular septal defect, ... |
ORPHA:2461 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, High palate, Atrial septal ... |
OMIM:612946 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft pa... |
OMIM:620210 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, R... |
OMIM:264480 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Branchial fistula, Ventricular septal defect, High, narrow pala... |
ORPHA:261330 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal varix, ... |
OMIM:616028 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Pulmonary sequestration, Atrial... |
OMIM:618330 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho... |
ORPHA:261197 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl... |
ORPHA:567 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Pancreatic f... |
ORPHA:564 |
Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic bi... |
ORPHA:1296 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Myofiber di... |
OMIM:619424 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:615731 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Abnormal pu... |
OMIM:620233 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Cleft palate, Abnormal aortic morphology, Multiple renal cysts, Vesico... |
ORPHA:1166 |
Isolated Cleft Lip |
|
Situs inversus totalis, Umbilical hernia, Velopharyngeal insufficiency |
ORPHA:199302 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Coarctation of aorta, Micropenis, High palate, Atrioventricular canal defect |
OMIM:618929 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Gast... |
OMIM:619534 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ... |
ORPHA:2970 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula... |
OMIM:614294 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Floating-Harbor Syndrome |
|
Hypospadias, Celiac disease, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Conge... |
OMIM:136140 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
High palate, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Cleft palate, Right aortic arch, Transpositio... |
OMIM:231060 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Glossoptosis, Ventricular septal defect, Cleft palate |
ORPHA:1388 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot... |
ORPHA:1926 |
Floating-Harbor Syndrome |
|
Hypospadias, Celiac disease, Tetralogy of Fallot, Renal cyst, Stage 5 chronic kidney disease, Nep... |
ORPHA:2044 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Dysphagia, Hypertrop... |
OMIM:616276 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... |
OMIM:619769 |
Renpenning Syndrome |
|
Hypospadias, High, narrow palate, Cleft palate, Heterotaxy, Anal atresia |
ORPHA:3242 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... |
ORPHA:290 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Vesicoureteral... |
ORPHA:1571 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... |
OMIM:616898 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia, Hypospadias |
ORPHA:96097 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladd... |
ORPHA:96092 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Cat Eye Syndrome |
|
Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total ano... |
OMIM:115470 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Spina bifida, ... |
ORPHA:508498 |
Digeorge Syndrome |
|
High, narrow palate, Abnormal thymus morphology, High palate, Gastroesophageal reflux, Hypoplasia... |
OMIM:188400 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Right atrial enlargement, Cirrhosi... |
ORPHA:57777 |
Thoracoabdominal Syndrome |
|
Hypospadias, Patent ductus arteriosus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transposi... |
OMIM:313850 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Hypospadias, Heterotaxy, Interrupted inferior vena cava with azygous c... |
OMIM:618846 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Branchial cyst, Ventricular septal defect, Unilateral renal agenesis... |
ORPHA:508488 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Aortic aneurysm, Myocardial sarcomeric disarray, Right atrial enlarge... |
OMIM:612422 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Gastrointestinal dysmotility, Patent ductus arteriosus, Atrial septal ... |
OMIM:619189 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Hypospadias, Parach... |
OMIM:618316 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Cleft... |
OMIM:309500 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Atrial sept... |
OMIM:620184 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Int... |
OMIM:243150 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Coronary artery calcification, Cardiomegaly, Nephrocalcinosis, Arterial calcification, Right atri... |
OMIM:614473 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... |
OMIM:173900 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Double outlet right ventricle, Cleft palate, Hypoplastic ... |
OMIM:220210 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Cleft palate, Renal cyst, Horseshoe kidney, L... |
OMIM:614815 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... |
OMIM:618624 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospa... |
OMIM:243800 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, High palate, Pulmonic stenosis, Aortic va... |
ORPHA:228410 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Anal atresia |
ORPHA:3469 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Malrotation of small bowel, Pu... |
ORPHA:139466 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... |
OMIM:606003 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... |
ORPHA:1677 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection, High palate, Aortic... |
OMIM:616166 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... |
ORPHA:500159 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
3C Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral... |
ORPHA:7 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Clef... |
OMIM:618494 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... |
OMIM:616651 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... |
OMIM:600987 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Vesicoureteral reflux |
ORPHA:228399 |
Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Mitral valve prolapse |
OMIM:157700 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... |
OMIM:614976 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Single coronary artery origin, Ventricular septal defe... |
ORPHA:1708 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ... |
ORPHA:1913 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Aplasia/Hypoplasia of the thymus, Hyp... |
ORPHA:1727 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Spina bif... |
ORPHA:230839 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Ventricular septal defect, Cleft palate |
ORPHA:94066 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... |
ORPHA:284169 |
Loeys-Dietz Syndrome 4 |
|
Broad uvula, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosi... |
OMIM:614816 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B... |
ORPHA:3310 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Patent ductus arteriosus, Narrow palate, Mitral valve prolapse, Right atri... |
ORPHA:555877 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Neurooculorenal Syndrome |
|
Dextrocardia, Unilateral renal agenesis, Intestinal malrotation, Stage 2 chronic kidney disease, ... |
OMIM:620305 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ... |
OMIM:614576 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Mitral valve prolapse |
ORPHA:2233 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... |
OMIM:615355 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Hypertrophic cardiomyopathy, Stroke, Left atrial enlargement, Right atrial enlargement |
OMIM:617047 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Gl... |
OMIM:618021 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... |
OMIM:619123 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... |
OMIM:617751 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Mitral valve prolapse |
ORPHA:2183 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Constricting Bands, Congenital |
|
Encephalocele, Abnormal lung lobation, Cleft palate, Ectopia cordis, Bladder exstrophy |
OMIM:217100 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Dextrocardia, Large placenta, Patent ductus arteriosus, Submuc... |
ORPHA:1662 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bil... |
OMIM:611134 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... |
OMIM:613404 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... |
ORPHA:99104 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Esophageal atresia, Patent ductus arteriosus, Abnorma... |
OMIM:300514 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar... |
ORPHA:488618 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Mitral valve prolapse, Aortic root aneurysm, Recurrent sinusitis, Umbilical hernia, Recurrent low... |
OMIM:130000 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl... |
OMIM:616145 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
OMIM:613870 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... |
OMIM:602782 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defec... |
ORPHA:2255 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent duct... |
ORPHA:452 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... |
ORPHA:141127 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... |
OMIM:608149 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Horseshoe kidney |
OMIM:218350 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... |
ORPHA:1923 |
Oculofaciocardiodental Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, Mitr... |
ORPHA:2712 |
Optic Atrophy 8 |
|
Mitral valve prolapse |
OMIM:616648 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di... |
ORPHA:730 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... |
ORPHA:95430 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Gastroesophageal reflux, Mitral valve prolapse |
ORPHA:908 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart |
ORPHA:2772 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Bladder diverticul... |
ORPHA:536545 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Prominent superficial veins, Anomalous branches of internal carotid ... |
ORPHA:363705 |
Trisomy 13 |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:3378 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect |
OMIM:314320 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Lymphadenopathy, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia |
ORPHA:2256 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, S... |
OMIM:235255 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Ventricular septal defect |
ORPHA:3369 |
Ring Chromosome 7 Syndrome |
|
Hypospadias, Situs inversus totalis, Cleft palate, Median cleft palate, Bifid uvula |
ORPHA:1449 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Submucous cleft h... |
OMIM:300166 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... |
ORPHA:85202 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, High palate, Atrial septal defect, P... |
OMIM:618950 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, Hypoplas... |
OMIM:617660 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Renal hypoplasia |
ORPHA:75389 |
Femoral-Facial Syndrome |
|
Ventricular septal defect, Cleft palate, Micropenis, Gastroesophageal reflux, Polycystic kidney d... |
OMIM:134780 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Cleft palate |
ORPHA:398156 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Stickler Syndrome Type 1 |
|
Cleft palate, Mitral valve prolapse |
ORPHA:90653 |
Cardiofaciocutaneous Syndrome 2 |
|
High palate, Mitral valve prolapse |
OMIM:615278 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Hypospadias, Vesicoureter... |
OMIM:301056 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
Poland Syndrome |
|
Encephalocele, Hypospadias, Dextrocardia, Vesicoureteral reflux, Renal hypoplasia, Acute leukemia... |
ORPHA:2911 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Spina bifida o... |
ORPHA:500 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Intestinal malrotation, Proteinuria |
ORPHA:2143 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Micropenis, Hypertrophic card... |
OMIM:616897 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Mitral valve prolapse, Vesic... |
OMIM:606408 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis... |
OMIM:269860 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Cleft palate |
OMIM:617616 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal refl... |
ORPHA:329224 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Ventricular septal defect |
OMIM:602501 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pericardial effusion, Th... |
OMIM:235510 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology, Ventricular septal defect, Recurrent aspiration pneumonia,... |
ORPHA:79243 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid valve, Submucous cleft hard p... |
OMIM:612863 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Pleuritis, Mitral valve prolapse |
ORPHA:2848 |
Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
ORPHA:3306 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, Tracheoesophageal fistula, Mitral valve prolapse, Aortic aneurysm, High p... |
ORPHA:115 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul... |
OMIM:619418 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Ant... |
OMIM:619980 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Abnormality of the ureter, Cholestasis, Nephrotic syndro... |
ORPHA:52 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Cleft palate, Atrial sept... |
OMIM:608572 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lym... |
ORPHA:1655 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Left ven... |
ORPHA:99106 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Urinary incontinence, Dysphagia, Mitral valve prolapse |
ORPHA:98 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Methioninuria, Mitral valve prolapse, High palate, Stroke, Homocystinuria, Pan... |
OMIM:236200 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... |
OMIM:619991 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate |
OMIM:214300 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Cleft palate, Bilateral lung a... |
OMIM:611812 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, P... |
OMIM:300963 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Gast... |
ORPHA:453499 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Cleft pala... |
ORPHA:2369 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Gastroesophag... |
OMIM:619909 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat... |
OMIM:192430 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Velopharyngeal in... |
OMIM:613680 |
Frank-Ter Haar Syndrome |
|
Umbilical hernia, Mitral valve prolapse |
ORPHA:137834 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Hypospadias, Intestinal malrotation, Coarctat... |
OMIM:617602 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Splenomegaly, Anomalous... |
OMIM:616368 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef... |
ORPHA:26793 |
Jansen-De Vries Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Atrial septal defect, Patent f... |
OMIM:615668 |
Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Cherry red spot of the macula, Mitral valve prolapse |
ORPHA:309155 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... |
ORPHA:2473 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... |
OMIM:174300 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, High pala... |
OMIM:201000 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Abnormal cerebral vascular morpholo... |
ORPHA:758 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... |
OMIM:612528 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Macroglossia, High palate, Umbilical hernia... |
ORPHA:369891 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios... |
ORPHA:354 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Hypo... |
OMIM:601808 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Ventricular septal de... |
ORPHA:261494 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Atrial septal defect, Patent fora... |
OMIM:614261 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Cleft palate, Umbilical h... |
OMIM:612938 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Mitral ... |
ORPHA:93932 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... |
ORPHA:2328 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:609654 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet vo... |
OMIM:222470 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ... |
OMIM:617159 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosis |
OMIM:615673 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... |
ORPHA:1199 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr... |
OMIM:613001 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Gastro... |
ORPHA:457193 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral valve prolapse |
OMIM:606631 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse |
OMIM:225320 |
Atrial Septal Defect, Ostium Secundum Type |
|
Transient ischemic attack, Pneumonia, Right ventricular dilatation, Stroke, Abnormal mitral valve... |
ORPHA:99103 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Tracheoe... |
ORPHA:2745 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mit... |
ORPHA:251066 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption... |
ORPHA:912 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, High palate, Atrial septal defect, Umbilical... |
OMIM:612582 |
Classic Multiminicore Myopathy |
|
Mitral valve prolapse, High palate, Right ventricular hypertrophy |
ORPHA:324604 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Recurrent upper respiratory tract infections, Ventricular septal defect |
ORPHA:3078 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, High, narrow palate, Pyloric stenosis, Patent ductus arteriosus, Cleft... |
ORPHA:435638 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormal heart morphology, Gastroesophageal reflux, Dysph... |
ORPHA:494344 |
Diaphanospondylodysostosis |
|
Cleft palate, Horseshoe kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Cystic renal dys... |
OMIM:608022 |
Cap Myopathy |
|
Aortic root aneurysm, High palate, Mitral valve prolapse |
ORPHA:171881 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Mitral valve prolapse |
ORPHA:3238 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Patent ductus arter... |
OMIM:220500 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
Costello Syndrome |
|
Ventricular septal defect, Narrow palate, Mitral valve prolapse, Macroglossia, Gastroesophageal r... |
ORPHA:3071 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Aortic valve stenosis, Gastrointestinal angiodysplasia, Mitral valve... |
OMIM:193400 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Mitral valve prolapse, Aortic root aneurysm... |
OMIM:618000 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Vesicoureteral reflux |
OMIM:615879 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Abnormality of the ureter, Ventricular septal defect, Cleft palate |
ORPHA:1770 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Cleft palate |
OMIM:617201 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Renovascular hypertension, Mitral valve... |
OMIM:264800 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Pyloric stenosis, Mitral stenosis, Dysphagia, Subvalvular aortic stenosis |
OMIM:619461 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, High ... |
OMIM:616449 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, High palate, Recurrent ... |
OMIM:300472 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Subvalvular aortic steno... |
OMIM:614114 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cyst, Renal cortical cysts, Cleft palate, Coar... |
ORPHA:1692 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Seckel Syndrome 9 |
|
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... |
OMIM:616777 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect |
ORPHA:1458 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss... |
ORPHA:1900 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia, Patent ductus ar... |
ORPHA:77298 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Atherosclerosis, Left atrial enlargement, Right atrial enlargement |
OMIM:614008 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Bone marrow... |
OMIM:609053 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid... |
ORPHA:404440 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Pat... |
ORPHA:2092 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Absent pulmonary artery, Patent ductus arteriosus, Cleft ... |
OMIM:600460 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Hepatic steatosis, Viral hepatitis, Abnormal erythrocyte enzyme le... |
ORPHA:101330 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse, High palate, Umbilical hernia, Ureteral triplica... |
OMIM:104350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Gastroesophageal reflux, High palate, Mitral valve prolapse |
OMIM:300986 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Gastroesophageal reflux, Ventricular septal defect |
OMIM:617635 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Me... |
ORPHA:209905 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Protruding... |
OMIM:214100 |
King-Denborough Syndrome |
|
High palate, Ventricular septal defect |
OMIM:619542 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Meningocele, Cleft palate, Renal cyst, Intracranial hem... |
OMIM:614424 |
Brachydactyly, Type B1 |
|
Micropenis, Ventricular septal defect |
OMIM:113000 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... |
OMIM:616652 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Cohen Syndrome |
|
High, narrow palate, Neutropenia, Leukopenia, Mitral valve prolapse |
OMIM:216550 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r... |
ORPHA:1596 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Patent ductus arteriosu... |
ORPHA:163956 |
Ogden Syndrome |
|
High, narrow palate, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Ventricular septal defect, Ureteral hypoplasia, Hepatic cysts, Per... |
ORPHA:79328 |
Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis,... |
ORPHA:797 |
Pontocerebellar Hypoplasia, Type 8 |
|
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia |
OMIM:614961 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas... |
OMIM:118450 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, High palate, Atrial... |
ORPHA:230851 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, High palate, Pulmonary artery atresia, Paten... |
OMIM:620113 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ... |
ORPHA:457279 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
ORPHA:261190 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosis, Micr... |
OMIM:263520 |
Beck-Fahrner Syndrome |
|
High palate, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... |
OMIM:609942 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr... |
ORPHA:96167 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Complete atrioventricu... |
OMIM:617063 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, ... |
ORPHA:261344 |
Warsaw Breakage Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Pallister-Hall Syndrome |
|
Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kidney, Patent ductu... |
OMIM:146510 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Atrial... |
OMIM:244300 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Kury-Isidor Syndrome |
|
High palate, Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Cleft palate |
OMIM:147800 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, High, narrow palate, Recurrent pneumonia, Cleft palate, F... |
ORPHA:464738 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:610733 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Noonan Syndrome 13 |
|
Atrial septal defect, Gastroesophageal reflux, High palate, Mitral valve prolapse |
OMIM:619087 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Dysphagia, Mitral valve prolapse |
OMIM:258450 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618870 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T... |
OMIM:153400 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Intest... |
ORPHA:2308 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Bilateral renal h... |
ORPHA:49 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Aganglio... |
OMIM:229850 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria |
OMIM:616901 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft palate, Atrial septal defect, Hepatic steatosis |
ORPHA:254346 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Hypospadias, Submucous cleft hard palate, Horseshoe kidney, Vesicouret... |
OMIM:619103 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias |
ORPHA:217346 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Rectourethral fistula, Cleft palate, Congenital posterior... |
OMIM:300000 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas... |
ORPHA:2962 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... |
OMIM:619472 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, High palate, Ventricular septal defect |
OMIM:617452 |
Neonatal Marfan Syndrome |
|
High, narrow palate, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubu... |
ORPHA:284979 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Patent ductus arteriosus, High palate, Dysphagia, Atrial septal defect |
OMIM:617061 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Cleft palate, High palate, Gastroesophageal reflux, Micropenis, Penosc... |
OMIM:617164 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Ventricular septal defect, Pulmonary hypoplasia, Cleft palate |
OMIM:612530 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis |
OMIM:614185 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Mitral valve prolapse |
ORPHA:1563 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, M... |
OMIM:130720 |
Heart And Brain Malformation Syndrome |
|
High, narrow palate, Ventricular septal defect, Interrupted aortic arch, Gastroesophageal reflux |
OMIM:616920 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
Sotos Syndrome |
|
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Patent ductus... |
OMIM:117550 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Hypospadias, High, narrow palate, Patent ductus arteriosus, Narrow pal... |
OMIM:158170 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Hypospadias, Pulmonary artery stenos... |
OMIM:300998 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis, Intracranial hemorrhage |
ORPHA:369929 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Micropenis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Vascular dilatation, Vesicourete... |
OMIM:607323 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Prominent superficial veins, Pyloric stenosis, Pneumothorax, Mitral valve prolapse, Biventricular... |
OMIM:617402 |
19P13.3 Microduplication Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Cleft palate |
ORPHA:447980 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... |
OMIM:300989 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Dysphagia |
OMIM:618325 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Reticuloc... |
OMIM:613309 |
Marfan Syndrome |
|
Mitral valve calcification, Spontaneous pneumothorax, High, narrow palate, Descending aortic diss... |
ORPHA:558 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft... |
OMIM:100300 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen... |
ORPHA:500095 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, High palate, Ventricular septal defect |
ORPHA:505237 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Mitral atresia, Ectopic kidney, Pulmonary artery stenosis, Horseshoe kidney,... |
ORPHA:140952 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Ves... |
OMIM:610443 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper... |
ORPHA:1465 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... |
OMIM:620025 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Renal cortical cysts, High palate |
OMIM:211750 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Rubinstein-Taybi Syndrome 1 |
|
High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Gastroesophageal... |
OMIM:180849 |
Distal Deletion 19P |
|
Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Umbilical hernia, Pulmonary va... |
ORPHA:96129 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc... |
ORPHA:79329 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Vesicoureteral refl... |
OMIM:616894 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Spina bifida occulta, T... |
OMIM:301030 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Bilateral cleft lip and palate, Mitral valve prolapse, High palate, Ankyloglossia |
OMIM:618874 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Median cleft lip and palate, Ventricular septal defect, Abnor... |
ORPHA:2162 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan sul... |
OMIM:253200 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft palate, Micropenis |
OMIM:106260 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Carotid artery stenosis, Pericardial effusion, Narrow palate, Mitral valve prolapse, ... |
ORPHA:536532 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Gastroesophageal reflux, Mitral valve prolapse |
ORPHA:449291 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy... |
OMIM:222448 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... |
ORPHA:124 |
Noonan Syndrome 14 |
|
High, narrow palate, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy, Lymph... |
OMIM:619745 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Vesicoureteral reflux,... |
OMIM:605039 |
Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Hypos... |
ORPHA:955 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... |
ORPHA:79345 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft palate, Macroglossia, ... |
OMIM:614609 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Mitral valve prolapse |
OMIM:108300 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Esophageal atresia, Ventricular septal defect, Cleft palate |
OMIM:610536 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Gastrointestinal dysmotility, Micropenis, Hydr... |
OMIM:617798 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Renal cyst, Stroke-like epis... |
ORPHA:137675 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, High palate, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Gastroesophageal reflux, Spina bifida occulta, Ventricular septal defect |
OMIM:617360 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, Aortic root aneurysm, A... |
OMIM:245600 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Ventricular septal defect, Elevated circulating... |
OMIM:280000 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Elevated c... |
OMIM:614866 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Protruding tongue, Reduced alpha/beta synthesis ratio, Hy... |
OMIM:301040 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ... |
ORPHA:1507 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palate, Mitral valve prolapse, Nephrot... |
OMIM:601776 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Macroglossia... |
OMIM:617107 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Gastroesophageal reflux, Atrial... |
OMIM:270400 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, High, narrow palate, High palate, Gastroesophageal reflux, Dysphagia |
OMIM:619312 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Hi... |
ORPHA:96191 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Cleft palate, Anteriorly placed anus, C... |
OMIM:309801 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p... |
OMIM:619488 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Cleft pa... |
OMIM:610759 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft palat... |
OMIM:300712 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, High palate, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Pneumonia, Hypospadias, Ectopic kidney, Proteinuria, High, narrow pala... |
OMIM:122470 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Pyloric stenosis, Atria... |
OMIM:147791 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micropenis, Ventricular septal defect |
OMIM:620073 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningoc... |
ORPHA:1393 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... |
OMIM:615582 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Meckel diverticulum, Ventricular septal defect, Eosinophilia, Spina bifida,... |
OMIM:274000 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Thrombocytopenia, Patent ductus arter... |
ORPHA:163979 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Pyloric stenosis, Pneumothorax, Mitral valve prol... |
OMIM:218040 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, High, narrow palate, Meningocele, High palate, Umbilical hernia |
ORPHA:2789 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Cleft palate, Mit... |
OMIM:151100 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular dilatation, Inflammation of the large intestine, Myeloproliferative disorder, R... |
ORPHA:70591 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular volume, High palate... |
ORPHA:261250 |
Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, High, narrow palate, Mitral valve pr... |
ORPHA:193 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormality of the urethra, Vesicoureteral reflux, Ureter... |
ORPHA:2438 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... |
ORPHA:508533 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral... |
OMIM:194050 |
Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Ureteral stenosis, Cleft palate, Mitral valve prolapse, Stillbi... |
OMIM:309350 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Cleft palate, ... |
OMIM:618454 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Cor pulmonale, Cleft palate, Mitral valve prolapse, High palate, Hydronephrosis |
OMIM:305620 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Mitral valve prolapse, Ascending ... |
ORPHA:536467 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulone... |
OMIM:619525 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Ureteropelvic... |
ORPHA:444072 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High, narrow palate, Aortic root aneurysm, High palate, Mitral valve prolapse |
OMIM:616914 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Hi... |
OMIM:618268 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr... |
OMIM:249420 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... |
OMIM:301043 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Ventricular septal defect, Gastroesophageal reflux, Dysphagia, Recurrent low... |
OMIM:619229 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Pyloric stenosis, Renal hypoplasia, Ectopic anus,... |
ORPHA:3138 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, R... |
OMIM:619575 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, High palate, Umbilical hernia, Aor... |
OMIM:182212 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Hy... |
ORPHA:353281 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Ventricular septal defect, Cleft palate |
ORPHA:251038 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Ectopic kidney, Es... |
OMIM:192350 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, High palate, Gastroesophageal reflux, Polycy... |
OMIM:606232 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Bicuspid aortic valve, Pneumothorax, Mitral annular calcification, N... |
OMIM:154700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Hepatoblastoma, Atrial septal defect, Exaggerated median tong... |
OMIM:312870 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:352665 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Bifid tongue, Abnormal heart morphology,... |
ORPHA:97360 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow pa... |
ORPHA:3380 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Hypochrom... |
ORPHA:97214 |
Shprintzen-Goldberg Syndrome |
|
High, narrow palate, Mitral valve prolapse, Gastroesophageal reflux, Abnormal aortic valve morpho... |
ORPHA:2462 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Ectopic kidney, Thrombocytopenia, Reticulocytopenia, Hor... |
OMIM:227645 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren... |
OMIM:617140 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Persi... |
OMIM:619268 |
Leigh Syndrome |
|
Ventricular septal defect, Gastrointestinal dysmotility, Neutropenia, Lacticaciduria, Methylmalon... |
ORPHA:506 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Nephrolithiasis, Desmoid tumors, Mitral ... |
ORPHA:137605 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, P... |
OMIM:300373 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec... |
ORPHA:373 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Renal tubular acidosis, Macroglossia, High p... |
OMIM:613457 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, High, narrow palate, Horseshoe kidney, Cleft palate... |
OMIM:272950 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Atrial septal defect, Spina bi... |
OMIM:257920 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Ventricular ... |
ORPHA:2729 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Cleft palate |
ORPHA:261236 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Pyloric stenosis, Patent ductu... |
ORPHA:464306 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart morphology |
ORPHA:85438 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Submucous ... |
ORPHA:3047 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Pulmonic stenosis, Aortic val... |
OMIM:277600 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm, Mitral valve prolapse |
OMIM:166200 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... |
ORPHA:464311 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Ectopic kidney, Patent ductus arteri... |
OMIM:117650 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Renal cyst, Coarctation of aorta |
OMIM:617260 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta, Ectopic kidney |
ORPHA:268249 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate,... |
OMIM:256520 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve prolapse, Umbilical he... |
OMIM:611962 |
Charge Syndrome |
|
Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Micropenis, Aplasi... |
OMIM:214800 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Crossed fused renal ectopia, Anal stenosis, Ventricular septal defect, Intestin... |
OMIM:147920 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Brittle Cornea Syndrome |
|
Cleft palate, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Esophageal atresia, Pyloric stenosis, Cleft palate, ... |
OMIM:101200 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Recurrent upper respirator... |
OMIM:602535 |
Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Duodenal ulcer, Dysplastic aortic valve |
OMIM:605822 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Furrowed tongue, Hi... |
OMIM:616975 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus... |
ORPHA:261337 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear... |
ORPHA:444077 |
Atypical Werner Syndrome |
|
Premature arteriosclerosis, Hepatic steatosis, Prominent superficial veins, Abnormal cerebral vas... |
ORPHA:79474 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... |
ORPHA:3474 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Coarctation of aorta, High palate, Atrial sept... |
OMIM:244450 |
Trichothiodystrophy |
|
Ventricular septal defect, Recurrent bronchopulmonary infections, High, narrow palate, Increased ... |
ORPHA:33364 |
Codas Syndrome |
|
Ventricular septal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defect, A... |
OMIM:600373 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, High palate, Ascending aortic... |
OMIM:608328 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Proteinuria, Intestinal malrotation, Hiatus hernia, Cerebral hemorrhag... |
OMIM:616682 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Dysphagia, Mitral valve prolapse |
OMIM:607459 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, High, narrow palate, Mitral valve prolapse, Abnormal heart morp... |
OMIM:615873 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Intestinal obstruction, Aortic dissection, Cerebral hemorrhage, ... |
ORPHA:666 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... |
OMIM:163950 |
Turnpenny-Fry Syndrome |
|
Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, High palate, G... |
OMIM:618371 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Long penis, Furrowed tongue, Nephrocalcinosis, Cardiomyopathy, Macrogl... |
ORPHA:769 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Dysplastic tricuspid valve, Cleft palate, Horseshoe kidney, Abnormal m... |
ORPHA:1724 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... |
OMIM:300967 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Renal c... |
OMIM:102500 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Micropenis, Ventricular septal defect, Cleft palate |
ORPHA:251028 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enur... |
ORPHA:96121 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, ... |
ORPHA:363958 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Gastrointestinal infarctions, Peripheral arteriovenous fistula, Hypospadias,... |
ORPHA:286 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Protruding tongue |
OMIM:212066 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Classical Ehlers-Danlos Syndrome |
|
Hiatus hernia, Rectal prolapse, Mitral valve prolapse, Bladder diverticulum, Aortic root aneurysm... |
ORPHA:287 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery hypoplasia, Pul... |
OMIM:245150 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Intestinal... |
OMIM:135900 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Cleft palate |
OMIM:178110 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, High palate, Pulmoni... |
ORPHA:363700 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Dilated cardiomyopathy, Mitral valve prolapse... |
ORPHA:2556 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Aganglionic megacolon, Ventricular septal defect |
OMIM:609460 |
Omodysplasia 1 |
|
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal... |
ORPHA:353277 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... |
OMIM:607872 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Atrial septal defect, Umbili... |
ORPHA:1519 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Secundum atr... |
OMIM:616268 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Hypospadias, Esophageal atresia, Patent ductus arteriosus, Micropenis |
OMIM:206900 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Ventricular septal defect, High, narrow palate, Macroglossia, Pulmonic stenosis |
ORPHA:488632 |
Larsen Syndrome |
|
Ventricular septal defect, Cleft palate, Atrial septal defect, Spina bifida occulta, Aortic aneurysm |
OMIM:150250 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Epispadias, Patent ductu... |
OMIM:615948 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Macroglossia, Enuresis, High, narrow palate, Mitral valve prolapse |
ORPHA:369950 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Hypospadias, Aganglionic megacolon, Pyloric st... |
OMIM:235730 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Ventricular septal defect, Gastroesophageal reflux |
OMIM:614653 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Neurogenic bladder, Ventricular septal defect, Cleft palate |
ORPHA:2710 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal left ventricle... |
ORPHA:466791 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Ascending aorta hypoplasia, High palate, Micropenis, Pelvic kidney, Hepatic steatosis, Hemolytic ... |
OMIM:619503 |
Townes-Brocks Syndrome 1 |
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Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... |
OMIM:107480 |
2Q31.1 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect, Cleft palate |
ORPHA:251014 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Mitral valve prolapse |
OMIM:259600 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... |
OMIM:607721 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Dilatation of the ventricular ... |
ORPHA:459070 |
Genitopatellar Syndrome |
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Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Malrotation of small bowe... |
OMIM:606170 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, High palate, Umbilical hernia, Micropenis, Patent foramen ovale |
OMIM:613884 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Unilateral renal agenesis, Hyposp... |
ORPHA:268261 |
Acrofacial Dysostosis 1, Nager Type |
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Ventricular septal defect, Aganglionic megacolon, Unilateral renal agenesis, Velopharyngeal insuf... |
OMIM:154400 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Gastroesophag... |
OMIM:301044 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Proteinuria, Impaired neutrophil chemotaxis, Pericar... |
ORPHA:79318 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Large placenta, Pulmonary artery stenosi... |
ORPHA:96334 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Aganglionic me... |
ORPHA:821 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar... |
OMIM:210710 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect, Cleft palate, Ureterocele, Umbilical hernia, Micropenis |
ORPHA:1934 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... |
ORPHA:672 |
Myhre Syndrome |
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Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Cleft palate, Coarctat... |
OMIM:139210 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef... |
OMIM:608670 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Hypospadias, Cardiomegaly, High, narrow palate, Pyloric stenosis, Reno... |
ORPHA:3472 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, High pal... |
OMIM:143095 |
Stickler Syndrome |
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Recurrent respiratory infections, Cleft palate, Mitral valve prolapse, Glossoptosis, Macroglossia... |
ORPHA:828 |
Hutchinson-Gilford Progeria Syndrome |
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Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Transient ischemic attack, ... |
ORPHA:740 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect, Cleft palate |
ORPHA:1071 |
Chromosome 16P13.3 Duplication Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Bifid uvula |
OMIM:613458 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney,... |
OMIM:164210 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valv... |
OMIM:619475 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Long penis, F... |
OMIM:268300 |
Orofaciodigital Syndrome Type 14 |
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Ventricular septal defect, Hamartoma of tongue, Epispadias, Patent ductus arteriosus, Aplasia of ... |
ORPHA:434179 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Ventricular septal defect, Bicuspid aortic valve, Cleft palate, High palate, Atrial septal defect |
OMIM:271640 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Ventricular septal defect, Recurrent pneumonia, Bifid uvula, High palate, Umbilical hernia, Hydro... |
OMIM:620330 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Vesicoureteral reflux, ... |
ORPHA:261552 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Patent ductus a... |
OMIM:619522 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Ventricular septal defect, Hypospadias, Malrotation of small bowel, Biliary tra... |
OMIM:194190 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Ventricular septal defect, Bilobate gallbladder, Patent ductus... |
OMIM:261540 |
Proboscis Lateralis |
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Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis... |
ORPHA:141099 |
Cornelia De Lange Syndrome |
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Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ... |
ORPHA:199 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Right aortic arch, Gastroesophageal reflux, Ventricular septal defect, Cleft palate |
ORPHA:513456 |
Ulnar-Mammary Syndrome |
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Anal stenosis, Ventricular septal defect, Pyloric stenosis, Micropenis, Anal atresia |
OMIM:181450 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Pallister-Killian Syndrome |
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Anal stenosis, Ventricular septal defect, Hypospadias, Intestinal malrotation, Patent ductus arte... |
OMIM:601803 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Hypospadias, Pyloric stenosis, Cardiomyopathy, High palate, Aspiration... |
OMIM:216340 |