Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Ch... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Situs inversus totalis, Abnormal ciliary motility, Dextrocardia, Bronchiecta... |
OMIM:611884 |
Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
Ciliary Dyskinesia, Primary, 29 |
|
Atelectasis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary dy... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 24 |
|
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 18 |
|
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis, Chronic br... |
OMIM:614874 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... |
OMIM:208530 |
Ciliary Dyskinesia, Primary, 27 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 13 |
|
Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Bronchiectasis... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 26 |
|
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insu... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis, Ciliary d... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Abnorma... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Respiratory ... |
OMIM:616037 |
Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... |
OMIM:605376 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 22 |
|
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Re... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 19 |
|
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insu... |
OMIM:614935 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Ciliary Dyskinesia, Primary, 32 |
|
Immotile cilia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary... |
OMIM:616481 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 38 |
|
Immotile cilia, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 2 |
|
Immotile cilia, Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiec... |
OMIM:606763 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Abdominal situs inversus, Situs inversus totalis, Dextrocardia |
OMIM:619607 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver... |
OMIM:615382 |
Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory... |
OMIM:608647 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic ... |
OMIM:620642 |
Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... |
OMIM:615067 |
Hypoglossia With Situs Inversus |
|
Asplenia, Situs inversus totalis, Polysplenia |
OMIM:612776 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis |
OMIM:617092 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Primary Ciliary Dyskinesia |
|
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... |
ORPHA:244 |
Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Asplenia, B... |
OMIM:244400 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... |
ORPHA:284454 |
Ciliary Dyskinesia, Primary, 51 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620438 |
Dextrocardia |
|
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobation, Abnormal heart mor... |
ORPHA:1666 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a... |
OMIM:249270 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... |
OMIM:208540 |
Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... |
ORPHA:3097 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia, Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ve... |
OMIM:619657 |
Ciliary Dyskinesia, Primary, 44 |
|
Heterotaxy, Bronchiectasis, Recurrent sinusitis |
OMIM:618781 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II ... |
ORPHA:79299 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... |
OMIM:267010 |
Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... |
ORPHA:185 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice |
OMIM:613095 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrioventricular canal defect,... |
OMIM:270100 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Bronchiectasis, Atelectasis, Ciliary dyskinesia |
OMIM:615294 |
Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... |
OMIM:609008 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Ciliary Dyskinesia, Primary, 11 |
|
Immotile cilia, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections, Bronch... |
OMIM:612649 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Abnormal ciliary motility, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:610852 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Heterotaxy, Truncu... |
ORPHA:3426 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
Meacham Syndrome |
|
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... |
OMIM:608978 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... |
OMIM:601186 |
Retinitis Pigmentosa 6 |
|
Immotile cilia, Recurrent respiratory infections |
OMIM:312612 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Ciliary Dyskinesia, Primary, 34 |
|
Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent bronchitis, Recurrent si... |
OMIM:617091 |
Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia |
OMIM:202650 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hypoglycemia |
OMIM:609016 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Persistent left superior vena cava, Transposition of the great art... |
OMIM:314390 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
3-Methylglutaconic Aciduria Type 1 |
|
Dystonia, Hypoglycemia |
ORPHA:67046 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia |
OMIM:215520 |
Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect |
ORPHA:1908 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Situs inversus totalis |
OMIM:614833 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, U... |
OMIM:613686 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:2863 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia |
OMIM:618067 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... |
ORPHA:2257 |
Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... |
OMIM:179613 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Accessory spleen, Bi... |
OMIM:618280 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis |
ORPHA:990 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Recurrent respiratory infections, Ciliary dyskinesia |
ORPHA:1882 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... |
ORPHA:99125 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... |
ORPHA:3304 |
Pagod Syndrome |
|
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... |
ORPHA:991 |
Ellis Van Creveld Syndrome |
|
Acute leukemia, Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs ... |
ORPHA:289 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Ciliary dyskinesia |
OMIM:242670 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Stroke-like episode, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Aspl... |
OMIM:185070 |
Wolcott-Rallison Syndrome |
|
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Acute... |
ORPHA:1667 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
Joubert Syndrome |
|
Situs inversus totalis |
ORPHA:475 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Double ... |
OMIM:614886 |
Mosaic Trisomy 9 |
|
Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular ... |
ORPHA:99776 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Anemia, Megaloblastic anemia, Atrial septal defect, Neutropenia, Dextrocardia, Hepa... |
OMIM:277380 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... |
ORPHA:210122 |
Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
Isolated Cleft Lip |
|
Situs inversus totalis |
ORPHA:199302 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
Mirage Syndrome |
|
Aspiration pneumonia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Intracranial hemorrhage,... |
OMIM:617053 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Johanson-Blizzard Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal cardiac septum morphology, Dextrocardia, Anemia, Abno... |
ORPHA:2315 |
Meckel Syndrome |
|
Accessory spleen, Situs inversus totalis, Congenital hepatic fibrosis, Pancreatic fibrosis, Asple... |
ORPHA:564 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Ventricular septal defect, D... |
OMIM:301056 |
Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Asplenia, Pul... |
OMIM:619123 |
Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Abnormal card... |
OMIM:614294 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Ventricular s... |
OMIM:619534 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Coarctation of aorta, Dextrocardia |
OMIM:618929 |
Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... |
OMIM:264480 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
Heme Oxygenase 1 Deficiency |
|
Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Elevated circulating aspartate aminotransf... |
OMIM:614034 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia |
ORPHA:261197 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Pearson Syndrome |
|
Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra... |
ORPHA:699 |
8P Inverted Duplication/Deletion Syndrome |
|
Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot, Dextrocardia |
ORPHA:96092 |
Marden-Walker Syndrome |
|
Dextrocardia, Pulmonary hypoplasia |
OMIM:248700 |
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 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Marden-Walker Syndrome |
|
Abnormal anatomic location of the heart, Situs inversus totalis, Dextrocardia, Ventricular septal... |
ORPHA:2461 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Pulmonary hypoplasia |
ORPHA:2437 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... |
ORPHA:99050 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... |
ORPHA:1457 |
Giant Cell Arteritis |
|
Vasculitis, Hepatic failure, Aortic dissection, Double outlet right ventricle with subpulmonary v... |
ORPHA:397 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... |
ORPHA:371428 |
Aortic Arch Interruption |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... |
ORPHA:2299 |
Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... |
OMIM:616652 |
Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... |
ORPHA:2326 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis... |
OMIM:610205 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... |
OMIM:612561 |
Maternal Phenylketonuria |
|
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:2209 |
Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... |
ORPHA:2847 |
Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia |
OMIM:313850 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Mitr... |
ORPHA:163956 |
Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
Joubert Syndrome With Ocular Defect |
|
Dextrocardia |
ORPHA:220493 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1926 |
Renpenning Syndrome 1 |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect, Ventricular septal defect |
OMIM:309500 |
Knobloch Syndrome |
|
Lymphangioma, Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... |
OMIM:265380 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Kawasaki Disease |
|
Vasculitis, Abnormal pulmonary interstitial morphology, Double outlet right ventricle with subpul... |
ORPHA:2331 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Aplasia of the thymus, Double outlet right ventricle, Atrial septal d... |
OMIM:618223 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
Carpenter Syndrome 2 |
|
Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ... |
OMIM:614976 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... |
ORPHA:1727 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Recurrent pneumonia, Abnormal... |
ORPHA:1329 |
Johanson-Blizzard Syndrome |
|
Intrahepatic cholestasis, Hepatic fibrosis, Dilated cardiomyopathy, Hepatic failure, Exocrine pan... |
OMIM:243800 |
Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Elevated circulating aspartate aminotr... |
OMIM:280000 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect |
OMIM:618846 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... |
OMIM:600001 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... |
OMIM:619910 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... |
OMIM:618164 |
Pentalogy Of Cantrell |
|
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula... |
ORPHA:1335 |
Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... |
OMIM:620305 |
Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal heart morpholo... |
ORPHA:980 |
Ring Chromosome 7 Syndrome |
|
Situs inversus totalis |
ORPHA:1449 |
Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... |
ORPHA:1596 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of... |
ORPHA:2255 |
Tetrasomy 9P |
|
Pulmonary hypoplasia, Juxtaductal coarctation of the aorta, Absent gallbladder, Abnormal mitral v... |
ORPHA:3310 |
Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... |
OMIM:249420 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... |
OMIM:300166 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of F... |
ORPHA:84064 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Subdural hemorrhage, Bicuspid aortic valve, Aortic aneurysm, Dextrocardia, Cerebral hemorrhage, A... |
ORPHA:536545 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
Catel-Manzke Syndrome |
|
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect |
OMIM:616145 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... |
ORPHA:95430 |
Poland Syndrome |
|
Acute leukemia, Abnormality of the liver, Atrial septal defect, Dextrocardia |
ORPHA:2911 |
Restrictive Dermopathy |
|
Pulmonary hypoplasia, Transposition of the great arteries, Atrial septal defect, Dextrocardia, Pa... |
ORPHA:1662 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Secundum atrial septal defect, Abdominal situs inversus, Muscular ventric... |
OMIM:142900 |
Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... |
ORPHA:227990 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... |
OMIM:619472 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... |
OMIM:269200 |
Feingold Syndrome 1 |
|
Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Ventricular septal defe... |
OMIM:164280 |
Sweeney-Cox Syndrome |
|
Asplenia, Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect |
ORPHA:40366 |
Constricting Bands, Congenital |
|
Ectopia cordis, Abnormal lung lobation |
OMIM:217100 |
Carpenter Syndrome 1 |
|
Polysplenia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries,... |
OMIM:201000 |
Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... |
ORPHA:227982 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypopl... |
OMIM:617925 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Hepatosplenomegaly, I... |
OMIM:619503 |
Meier-Gorlin Syndrome 7 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Meconium peritonitis, Atrial s... |
OMIM:617063 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Hamamy Syndrome |
|
Microcytic anemia, Hypochromic anemia, Complete atrioventricular canal defect, Atrial septal defect |
OMIM:611174 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
Charge Syndrome |
|
Secundum atrial septal defect, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Lymphopenia... |
OMIM:214800 |
Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Coarctation of aorta, V... |
OMIM:249000 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Chronic active hepatitis |
OMIM:240300 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
8Q24.3 Microdeletion Syndrome |
|
Abnormal lung lobation, Abnormal heart morphology, Atrioventricular canal defect, Exocrine pancre... |
ORPHA:508488 |
Limb Body Wall Complex |
|
Abnormal heart morphology, Abnormality of the liver, Ventricular septal defect, Atrial septal def... |
ORPHA:2369 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... |
OMIM:253800 |
Leopard Syndrome 1 |
|
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Subva... |
OMIM:151100 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect |
ORPHA:1780 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal lung lobation, Complete atrioventricular canal defect, Ventricular sep... |
OMIM:236680 |
Doors Syndrome |
|
Thrombocytosis, Double outlet right ventricle, Aspiration pneumonia |
ORPHA:79500 |
Pseudoaminopterin Syndrome |
|
Asplenia, Patent foramen ovale |
ORPHA:221120 |
Floating-Harbor Syndrome |
|
Tetralogy of Fallot, Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial... |
ORPHA:2044 |
Floating-Harbor Syndrome |
|
Mesocardia, Coarctation of aorta, Atrial septal defect, Persistent left superior vena cava |
OMIM:136140 |
Chime Syndrome |
|
Acute leukemia, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transpos... |
ORPHA:3474 |
Tetraamelia Syndrome 1 |
|
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Polysplenia, Rig... |
OMIM:312870 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... |
OMIM:612474 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonary valve m... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonary valve m... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmonary artery sling, Bi... |
ORPHA:2152 |
Neu-Laxova Syndrome 1 |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Patent duct... |
OMIM:256520 |
Vater/Vacterl Association |
|
Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s... |
OMIM:192350 |