| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... |
OMIM:605376 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... |
OMIM:615382 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:608644 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... |
OMIM:615415 |
| Ciliary Dyskinesia, Primary, 24 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:615481 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:614017 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... |
OMIM:208530 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Situs inversus totalis, Recurrent sinu... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
| Ciliary Dyskinesia, Primary, 18 |
|
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Respiratory insufficiency due t... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Ciliary Dyskinesia, Primary, 29 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 13 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:613193 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobatio... |
ORPHA:1666 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... |
OMIM:613751 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:612518 |
| Primary Ciliary Dyskinesia |
|
Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal heart morphology, Pulmonary... |
ORPHA:244 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot... |
OMIM:620642 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615504 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... |
ORPHA:185 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Immotile cilia, Situs inversus tota... |
OMIM:615500 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus tota... |
OMIM:249270 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615505 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Intestinal malrotation, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus,... |
ORPHA:401935 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurre... |
OMIM:613807 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:614679 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis |
OMIM:614844 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... |
OMIM:208540 |
| Ciliary Dyskinesia, Primary, 32 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Patent ... |
OMIM:618280 |
| Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
| Ciliary Dyskinesia, Primary, 19 |
|
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Situs inversus tota... |
OMIM:614935 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Horse... |
ORPHA:3097 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis |
OMIM:617092 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Situs inversus totalis |
OMIM:615985 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Abnormal lung lobation, Abnormal aortic morphology, Truncus arteriosus, Vent... |
ORPHA:2516 |
| Ciliary Dyskinesia, Primary, 51 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620438 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Persistent left superior vena cava... |
OMIM:314390 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... |
ORPHA:3426 |
| Hypoglossia With Situs Inversus |
|
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate |
OMIM:612776 |
| Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:612444 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri... |
OMIM:616589 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Cleft ... |
OMIM:601355 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextrocardia, Recurrent respirat... |
OMIM:615444 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... |
OMIM:306955 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a... |
OMIM:619657 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Microphthalmia, Syndromic 9 |
|
Neonatal death, Ventricular septal defect, Atrial septal defect, Single ventricle, Hypoplastic sp... |
OMIM:601186 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis |
OMIM:612650 |
| Thoraco-Abdominal Enteric Duplication |
|
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Hep... |
ORPHA:1759 |
| Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:606763 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... |
OMIM:609008 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... |
OMIM:619608 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:610852 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... |
OMIM:608647 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... |
OMIM:267010 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Situs inversus totalis, Renal insufficiency, Hepatic cysts, Multi... |
OMIM:613095 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:613808 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... |
ORPHA:1908 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:270100 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Ciliary Dyskinesia, Primary, 46 |
|
Ciliary dyskinesia |
OMIM:619436 |
| Meacham Syndrome |
|
Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Dextrocar... |
OMIM:608978 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... |
OMIM:615067 |
| Nephronophthisis 2 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Situs inversus totalis, Absence of renal cortic... |
OMIM:602088 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, E... |
OMIM:613759 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Myelomenin... |
OMIM:613686 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
| Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia |
OMIM:615294 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Cleft palate, Pulm... |
OMIM:202650 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia |
OMIM:618801 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Recu... |
OMIM:609029 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Dextrocardia, High palate, Anal atresia, Patent ductus arteriosus |
ORPHA:2863 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Ciliary dyskinesia |
OMIM:242670 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Cleft palate, Truncus arteriosus |
OMIM:611867 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Recurrent respiratory infections, Dextrocardia |
OMIM:106700 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... |
OMIM:600001 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... |
OMIM:615994 |
| Ciliary Dyskinesia, Primary, 11 |
|
Immotile cilia, Ciliary dyskinesia |
OMIM:612649 |
| Verheij Syndrome |
|
Renal hypoplasia, Branchial cyst, Truncus arteriosus, Ventricular septal defect, Renal cyst, Clef... |
OMIM:615583 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral stenosis, Pneumotho... |
ORPHA:2257 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Bronchiectasis |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 44 |
|
Heterotaxy |
OMIM:618781 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Renal insufficiency, Ventricular... |
OMIM:617478 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Bifid uvula, Unilateral renal agenesis, Gastroesophageal reflux, Renal hyp... |
ORPHA:96170 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Multicystic kidney dysplasia, Abnormal lung lobation, Inte... |
ORPHA:2538 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal lung lobation, Intestinal malrotation, Abnormal heart valve morphol... |
ORPHA:99776 |
| Pagod Syndrome |
|
Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormality of... |
ORPHA:991 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia |
OMIM:616726 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... |
ORPHA:3032 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Ciliary Dyskinesia, Primary, 34 |
|
Reduced respiratory ciliary beating frequency |
OMIM:617091 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... |
ORPHA:1354 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function, Ventricular septal defect |
ORPHA:306550 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of... |
ORPHA:980 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Situs inversus totalis |
OMIM:614833 |
| Ellis Van Creveld Syndrome |
|
Acute leukemia, Hydroureter, Emphysema, Atrioventricular canal defect, Abnormal heart valve morph... |
ORPHA:289 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Micropenis, Ureteral duplication, Hypospadias, Pat... |
OMIM:617516 |
| Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia |
OMIM:618067 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ureteral agenesis, Hydronephrosis, Tracheoesophageal fistula, Spina bifida, Dex... |
ORPHA:2437 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Ventricular septal defect, Hepatom... |
OMIM:614876 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... |
OMIM:115197 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Microglossia, Situs inversus totalis |
ORPHA:990 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Intestinal malrotation, Neonatal death, Ventricular septal defect, Cleft... |
OMIM:615524 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Interstitial cardiac fibrosis, Pulmonary edema, Stroke, Left atrial ... |
ORPHA:75249 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Mitral stenosis, Ventricular septal defect, Truncus arteriosus, Coarctation ... |
ORPHA:2008 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Marden-Walker Syndrome |
|
High, narrow palate, Pulmonary hypoplasia, Renal hypoplasia, Zollinger-Ellison syndrome, Dextroca... |
OMIM:248700 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Joubert Syndrome |
|
Aganglionic megacolon, Situs inversus totalis, Encephalocele |
ORPHA:475 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Anemia, Tracheoesophageal... |
OMIM:277380 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomeg... |
OMIM:620210 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod... |
OMIM:620233 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Anal a... |
OMIM:612946 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Branchial fistula, Ankyloglossia, Ventricular septal defect, Truncus arterio... |
ORPHA:261330 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulm... |
OMIM:616028 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Exocrine pancreatic insufficiency, Hydronephrosis, Abnormal cardiac septu... |
ORPHA:2315 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney disease, Ventricular septal... |
OMIM:618719 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... |
ORPHA:99125 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Bifid uvula, Multicystic kidney dysplasia, Hydroureter, Situs inversus... |
ORPHA:2461 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Atrial septal defect, Pulmonary sequestration, Hypospadias, Patent duc... |
OMIM:618330 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic... |
ORPHA:261197 |
| Pseudotrisomy 13 Syndrome |
|
Renal hypoplasia, Median cleft palate, Encephalocele, Complete atrioventricular canal defect, Ven... |
OMIM:264480 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi... |
OMIM:619424 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect, Jejunal atresia |
ORPHA:391646 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Anal atresia, Hypospadias, Patent ductus arterio... |
ORPHA:567 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Lambert Syndrome |
|
Cholestasis, Branchial anomaly, Ventricular septal defect, Intrahepatic biliary atresia, Jaundice... |
ORPHA:1296 |
| Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue... |
ORPHA:564 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Vesicoureteral reflux, Abnormal aortic morphology, Abnormality of the pulmon... |
ORPHA:1166 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Volvulus, Recurrent respiratory infections, Intestinal... |
ORPHA:2970 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Partial atrioventricular canal defect, Renal insufficie... |
OMIM:615996 |
| Nemaline Myopathy 9 |
|
High palate, Cleft palate, Ventricular septal defect |
OMIM:615731 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Coarctation of aorta, Dextrocardia, Micropenis, High palate |
OMIM:618929 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Cholestasis, Dark urine, Congenital hepatic fibrosis, N... |
OMIM:619534 |
| Floating-Harbor Syndrome |
|
Nephrocalcinosis, Umbilical hernia, Glandular hypospadias, Mesocardia, Hydronephrosis, Persistent... |
OMIM:136140 |
| Feingold Syndrome 2 |
|
Intestinal atresia, Ventricular septal defect |
OMIM:614326 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal heart morphology, Tetralogy of Fallot, Part... |
ORPHA:2847 |
| Isolated Cleft Lip |
|
Situs inversus totalis, Velopharyngeal insufficiency, Umbilical hernia |
ORPHA:199302 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Dextrocardia,... |
OMIM:614294 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, High palate, Mitral valve prolapse, Pulmonic stenosis |
ORPHA:2868 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Ventricular septal defect, Renal cyst, Double outlet right ventricle, Transpos... |
OMIM:231060 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... |
ORPHA:1926 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent pneumonia, Umbil... |
OMIM:619769 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Floating-Harbor Syndrome |
|
Nephrocalcinosis, Gastroesophageal reflux, Tetralogy of Fallot, Stage 5 chronic kidney disease, M... |
ORPHA:2044 |
| Catel-Manzke Syndrome |
|
Glossoptosis, Atrial septal defect, Cleft palate, Ventricular septal defect |
ORPHA:1388 |
| Cirrhotic Cardiomyopathy |
|
Pulmonary edema, Left atrial enlargement, Left ventricular hypertrophy, Cardiomegaly, Cirrhosis, ... |
ORPHA:57777 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Dysphagia, Patent... |
OMIM:616276 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Anemia, Atrial sept... |
ORPHA:290 |
| Knobloch Syndrome |
|
Occipital encephalocele, Bifid ureter, Vesicoureteral reflux, Dextrocardia, Lymphangioma, Patent ... |
ORPHA:1571 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... |
ORPHA:1909 |
| Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobi... |
OMIM:612561 |
| Chromosome 15Q14 Deletion Syndrome |
|
Recurrent viral upper respiratory tract infections, Atrial septal defect, Cleft palate, Ventricul... |
OMIM:616898 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Renpenning Syndrome |
|
High, narrow palate, Heterotaxy, Anal atresia, Hypospadias, Cleft palate |
ORPHA:3242 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... |
ORPHA:210122 |
| Digeorge Syndrome |
|
Hepatic steatosis, Ventricular septal defect, High palate, Patent ductus arteriosus, High, narrow... |
OMIM:188400 |
| Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev... |
ORPHA:64743 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Atrial septal defect, Rectal atresia, Anal atresia, Patent ductus arte... |
OMIM:115470 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal hypoplasia, Tetralogy of Fallot, Atrioventricular canal defect, Horseshoe kidney, Exocrine ... |
ORPHA:508498 |
| Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Abnormal heart morphology, Tetralogy of Fallot, Hydronephrosis, Aplasia/Hypo... |
ORPHA:96092 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Transposition of the great arteries, Ectopia cordis, Anencephaly, Patent ductus arte... |
OMIM:313850 |
| 8Q24.3 Microdeletion Syndrome |
|
Unilateral renal agenesis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Branchial cyst, ... |
ORPHA:508488 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Pat... |
OMIM:618316 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Right atrial enlargement, Aortic aneurysm, Restrictive cardiomyopathy, Myocardial sarcomeric disa... |
OMIM:612422 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Cleft... |
ORPHA:2476 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Heterotaxy, Ventricular septal defect, Interrupted inferior vena cava with azyg... |
OMIM:618846 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Li-Campeau Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Gastrointestinal dysmotility, Atrial septal defe... |
OMIM:619189 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Encephalocele, Cleft palate, Dextrocardia |
ORPHA:220493 |
| Pentalogy Of Cantrell |
|
Hypospadias, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladde... |
ORPHA:1335 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:208085 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina... |
OMIM:243150 |
| Atelis Syndrome 1 |
|
Leukopenia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia, High palat... |
OMIM:620184 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Pyloric stenosis |
OMIM:614262 |
| Renpenning Syndrome 1 |
|
Renal hypoplasia, Tetralogy of Fallot, Situs inversus totalis, Phimosis, Ventricular septal defec... |
OMIM:309500 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Arterial calcification, Cardiomegaly, Coronary artery calcification, Right atri... |
OMIM:614473 |
| Timothy Syndrome |
|
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... |
OMIM:601005 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Horseshoe kidney, Ventricular septal defect, Renal cyst, Intrahepatic bi... |
OMIM:614815 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Hepatic... |
OMIM:173900 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Pleural effusion, Cardiomegaly, Abnormal vena cava morpho... |
ORPHA:1677 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricul... |
ORPHA:500159 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Ventricular septal defect, Thrombocytop... |
OMIM:618624 |
| Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Ventricular septal defect, Hypospadias, Pu... |
ORPHA:139466 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Mitral valve prolapse, High palate, Pulmo... |
ORPHA:228410 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Hy... |
OMIM:220210 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Neonatal death, Ventricular septal defect, Bicuspid aortic ... |
OMIM:265380 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... |
OMIM:606003 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... |
ORPHA:3405 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Femoral-Facial Syndrome |
|
Gastroesophageal reflux, Encephalocele, Ventricular septal defect, Truncus arteriosus, Bilobed ri... |
OMIM:134780 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Coarctation of... |
OMIM:600987 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm, ... |
OMIM:616166 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Roifman Syndrome |
|
Recurrent pneumonia, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosin... |
OMIM:616651 |
| Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Atrial se... |
OMIM:243800 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... |
ORPHA:1913 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Anteri... |
OMIM:618494 |
| 3C Syndrome |
|
High, narrow palate, Aortic valve stenosis, Hypoplastic left heart, Gastroesophageal reflux, Recu... |
ORPHA:7 |
| 8Q12 Microduplication Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... |
ORPHA:1727 |
| Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Mitral valve prolapse |
OMIM:157700 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... |
OMIM:301068 |
| Mosaic Trisomy 16 |
|
Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Horseshoe kidney, Large p... |
ORPHA:1708 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Mitral valve prolapse, Stroke, Spina bifida occulta, Precocious athe... |
ORPHA:230839 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement, Stroke |
OMIM:617047 |
| Carpenter Syndrome 2 |
|
High, narrow palate, Umbilical hernia, Situs inversus totalis, Transposition of the great arterie... |
OMIM:614976 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Mitral valve prolapse, Bicuspid aortic valve, Right atrial enlargement, Narrow palate, Patent duc... |
ORPHA:555877 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Atrial septal ... |
OMIM:618142 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Cleft palate, Ventricular septal defect |
ORPHA:94066 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot wi... |
OMIM:620305 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth |
OMIM:263630 |
| Tetrasomy 9P |
|
Bifid uvula, Umbilical hernia, Juxtaductal coarctation of the aorta, Horseshoe kidney, Median cle... |
ORPHA:3310 |
| Syndromic Diarrhea |
|
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... |
ORPHA:84064 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Anomalous origin of rig... |
ORPHA:99050 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Left ventricular hypert... |
OMIM:615355 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Mitral valve prolapse |
ORPHA:2233 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Recurrent pneumonia, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hypospad... |
OMIM:617751 |
| Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, At... |
OMIM:179613 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Elevated ci... |
OMIM:614576 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
| Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse |
OMIM:604308 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Transient ischemic attack, Anomalous origin of the left common carotid artery from the... |
ORPHA:99104 |
| Tetraamelia Syndrome 2 |
|
Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins, M... |
OMIM:618021 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Mitral valve prolapse, Pulmonary lymphangiectasia |
OMIM:247410 |
| Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Asplenia, Cle... |
OMIM:619123 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula... |
OMIM:616277 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
| Constricting Bands, Congenital |
|
Abnormal lung lobation, Encephalocele, Ectopia cordis, Bladder exstrophy, Cleft palate |
OMIM:217100 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Umbilical hernia, Bowel diverticulosis, Recurrent sinusitis, Mitral valve p... |
OMIM:130000 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplastic aortic arch, Ventricular sep... |
OMIM:620511 |
| Restrictive Dermopathy |
|
Microcolon, Small placenta, Large placenta, Short umbilical cord, Submucous cleft hard palate, Tr... |
ORPHA:1662 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Mitral valve prolapse |
ORPHA:2183 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... |
OMIM:615630 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... |
ORPHA:95430 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se... |
ORPHA:392 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... |
OMIM:618652 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Abnormal lung lobation, Ventricular septal defect, Patent ductus arteriosus, Tra... |
OMIM:300514 |
| Loeys-Dietz Syndrome 4 |
|
High, narrow palate, Bifid uvula, Broad uvula, Aortic root aneurysm, Aortic dissection, Arterial ... |
OMIM:614816 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Cleft palate |
ORPHA:2345 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Renal cyst, Atrial septal defect, Meningocele, Anenceph... |
OMIM:611134 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:613404 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Aganglionic megacolon, Atrial septal defect, Micropenis, Patent ductus... |
OMIM:613870 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis, Ventricular sep... |
ORPHA:85202 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Catel-Manzke Syndrome |
|
Bifid uvula, Umbilical hernia, Ventricular septal defect, Overriding aorta, Coarctation of aorta,... |
OMIM:616145 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Short chordae tendineae of th... |
OMIM:314400 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnorma... |
ORPHA:141127 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... |
ORPHA:488618 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Mitral valve p... |
OMIM:602782 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Dilatat... |
ORPHA:730 |
| Kagami-Ogata Syndrome |
|
Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Patent ductus arteri... |
OMIM:608149 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve prolapse, Ventricula... |
OMIM:616564 |
| Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Dysphagia, Ventricular septal defect |
OMIM:619083 |
| Craniofacial Dyssynostosis With Short Stature |
|
Horseshoe kidney, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Pyloric stenosis |
OMIM:218350 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, U... |
ORPHA:2255 |
| Oculofaciocardiodental Syndrome |
|
Peripheral pulmonary artery stenosis, Intestinal malrotation, Submucous cleft hard palate, Mitral... |
ORPHA:2712 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Urogenital sinus anomaly, Ventricular sept... |
OMIM:618901 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Splenomegaly, Ventricul... |
OMIM:235255 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Dysphagia, Lymphadenopathy, Neoplasm of the lung |
ORPHA:1332 |
| Trisomy 13 |
|
High, narrow palate, Abnormal lung lobation, Abnormality of the ureter, Ventricular septal defect... |
ORPHA:3378 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi... |
ORPHA:1923 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... |
OMIM:620454 |
| Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Patent foramen ovale, Ventricular septal defect, Hydronephrosis... |
OMIM:618950 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Subdural hemorrhage, Umbilical hernia, Antenatal intracerebral hemorrhage, Bicuspid aortic valve,... |
ORPHA:536545 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Bifid uvula, Umbilical hernia, Submucous cleft hard palate, Ventricular se... |
OMIM:300166 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Hypoplasia of penis, Ventricular septal defect |
ORPHA:2772 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal cerebral va... |
ORPHA:363705 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect |
OMIM:314320 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Congenital Disorder Of Glycosylation, Type It |
|
Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic trans... |
OMIM:614921 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect |
ORPHA:2256 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Phaver Syndrome |
|
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypo... |
ORPHA:2876 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Elevated circulating hepatic transaminase concentration, Leukopenia, Vesicoureteral r... |
OMIM:301056 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Ventricular septal defect |
ORPHA:3369 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bifid uvula, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perim... |
OMIM:612474 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Hydroneph... |
OMIM:616897 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... |
ORPHA:500 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Ring Chromosome 7 Syndrome |
|
Bifid uvula, Situs inversus totalis, Median cleft palate, Hypospadias, Cleft palate |
ORPHA:1449 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, High palate,... |
OMIM:617022 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... |
OMIM:610978 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Cleft palate, Ventricular septal defect |
ORPHA:398156 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Ventricular septal defect, Aganglionic megacolon, Hypoplasia o... |
ORPHA:452 |
| Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary artery dilatation, Left atrial enlargement, Left ventricular hypertrophy, Right atrial ... |
ORPHA:99106 |
| Cardiofaciocutaneous Syndrome 2 |
|
High palate, Mitral valve prolapse |
OMIM:615278 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Decreased liver function, Extramedullary hematopoiesis, Sidero... |
OMIM:617021 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Stickler Syndrome Type 1 |
|
Cleft palate, Mitral valve prolapse |
ORPHA:90653 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... |
ORPHA:1457 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, St... |
OMIM:616730 |
| Poland Syndrome |
|
Renal hypoplasia, Acute leukemia, Ureterocele, Abnormality of the liver, Vesicoureteral reflux, E... |
ORPHA:2911 |
| Donnai-Barrow Syndrome |
|
Intestinal malrotation, Proteinuria, Ventricular septal defect, Umbilical hernia |
ORPHA:2143 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pleuritis, Mitral valve prolapse, Pericarditis |
ORPHA:2848 |
| Optic Atrophy 8 |
|
Mitral valve prolapse |
OMIM:616648 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Umbilical ... |
OMIM:235510 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Gastroesophageal reflux, Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicus... |
ORPHA:329224 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Mitral valve prolapse, Patent foramen ovale |
OMIM:615539 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Vesicoureteral reflux, Quadricuspid aortic valve, Mitral valve prolaps... |
OMIM:606408 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Gastroesophageal reflux, Abnormal medullary pyramid morphology, V... |
ORPHA:79243 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, Submucous cleft hard p... |
OMIM:612863 |
| Fragile X Syndrome |
|
Gastroesophageal reflux, Mitral valve prolapse, Ascending tubular aorta aneurysm |
ORPHA:908 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Juvenile gastrointestinal polyposis,... |
OMIM:175050 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Hepatic sinusoidal dilatation, Atelectasis, Cerebral hemorrhage, Retinal arteria... |
OMIM:620371 |
| Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... |
ORPHA:3282 |
| Short-Rib Thoracic Dysplasia 12 |
|
Pulmonary hypoplasia, Renal hypoplasia, Periportal fibrosis, Atelectasis, Hamartoma of tongue, In... |
OMIM:269860 |
| Pelger-Huet Anomaly |
|
Giant platelets, Umbilical hernia, Median cleft palate, Ventricular septal defect, Hyposegmentati... |
OMIM:169400 |
| Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
| Trisomy X |
|
Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Cleft palate, Ventricular septal defect |
OMIM:617616 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Spl... |
ORPHA:1655 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Unilateral renal agenesis, High palate, Ventricular septal defect |
ORPHA:3306 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... |
OMIM:619418 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Nephrotic syndrome, Cholestasis, Abnormality of the ureter,... |
ORPHA:52 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Ventricular septal defect |
OMIM:602501 |
| Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, Mitral valve prolapse, Aortic aneurysm, Tracheoesophageal fistula, High p... |
ORPHA:115 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Increased mean corpuscular volume, Tetralogy of Fallot, Horseshoe ... |
OMIM:612562 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Anteriorly placed anus, Aortic valve prolapse, Ventricular septal d... |
OMIM:619980 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... |
OMIM:620609 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Urinary incontinence, Dysphagia, Mitral valve prolapse |
ORPHA:98 |
| Burn-Mckeown Syndrome |
|
Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Ventricular septal defect, Atrial septa... |
OMIM:608572 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Bilateral lung agenesis, Ventricular septal defect, Pul... |
OMIM:611812 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Furrowed tongue, Atrioventricula... |
ORPHA:453499 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Bifid uvula, Hypoplastic left heart, Spinal dysraphism, Renal hypoplasia, ... |
OMIM:617660 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... |
OMIM:619991 |
| Ritscher-Schinzel Syndrome 2 |
|
Pulmonary artery hypoplasia, Intestinal malrotation, Protruding tongue, Ventricular septal defect... |
OMIM:300963 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Dysphagia, Pat... |
OMIM:619909 |
| Chops Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Vesicourete... |
OMIM:616368 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Ventricular septal defect |
OMIM:214300 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Intestinal malrotation, Ventricular septal defect, Coarctation of aorta, An... |
OMIM:617602 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Hepatic steatosis, Mitral valve prolapse, Stroke, Pancreatitis, High palate, Meth... |
OMIM:236200 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Large placenta, Ventricular septal defect, Umbilical hernia |
ORPHA:254534 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Anter... |
ORPHA:26793 |
| Tyshchenko Syndrome |
|
High, narrow palate, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, High pal... |
OMIM:615102 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... |
OMIM:192430 |
| Limb Body Wall Complex |
|
Myelomeningocele, Abnormal heart morphology, Abnormality of the liver, Encephalocele, Short umbil... |
ORPHA:2369 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Gastroesophageal reflux, Ventricular septal defect |
OMIM:617450 |
| Chromosome 5Q12 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia, Patent ductu... |
OMIM:615668 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Recurrent respiratory infections, Hamartoma of tongue, Ankyloglossia, Tetralogy of F... |
OMIM:174300 |
| Frank-Ter Haar Syndrome |
|
Mitral valve prolapse, Umbilical hernia |
ORPHA:137834 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Noonan Syndrome 9 |
|
Coarctation of aorta, Hydroureter, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Tetralogy of Fallot, Glandular hypospadias,... |
ORPHA:2473 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Velopharyngeal insufficiency, Horseshoe kidney, Ventricular septal def... |
OMIM:613680 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Abnormal atriovent... |
ORPHA:324410 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Mitral valve prolapse, Cherry red spot of the macula |
ORPHA:309155 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul... |
ORPHA:3427 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... |
OMIM:601927 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Mac... |
ORPHA:369891 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Transient ischemic attack, Abnormal mitral valve morphology, Stroke, Right atrial enla... |
ORPHA:99103 |
| Kleefstra Syndrome |
|
Gastroesophageal reflux, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Ventric... |
ORPHA:261494 |
| Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
| Down Syndrome |
|
