Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... |
OMIM:614779 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma... |
OMIM:615415 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arterios... |
OMIM:270100 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... |
ORPHA:369 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... |
OMIM:618955 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom... |
OMIM:618699 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,... |
OMIM:619123 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal renal morphology, Abnor... |
ORPHA:1666 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... |
OMIM:613313 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Recurrent sinusitis, ... |
OMIM:614874 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fib... |
OMIM:232400 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Abnormal localization of kidney, Prolonged neonatal jaundice |
ORPHA:446 |
Colonic Atresia |
|
Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... |
OMIM:619657 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplas... |
OMIM:612284 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinur... |
OMIM:201475 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Bile duct proliferation, Renal cyst |
OMIM:611134 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ... |
OMIM:231530 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... |
OMIM:616589 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Hy... |
OMIM:619111 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system |
OMIM:213010 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Megacystis, Abdominal situs inversus, Vesicoureteral reflux |
ORPHA:2604 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Absent inner dynein arms, Situs inversus totalis, Recurrent pne... |
OMIM:613807 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Splenoportal Vascular Anomalies |
|
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system |
OMIM:271500 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth... |
ORPHA:3156 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholestatic liver dise... |
OMIM:619858 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Vasc... |
OMIM:216360 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect, Decreased liver function |
OMIM:617021 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Abnormality of th... |
ORPHA:280 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Patent ductus arte... |
OMIM:606003 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Death in childhood, ... |
OMIM:602579 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonat... |
OMIM:613730 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransf... |
OMIM:278000 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... |
ORPHA:79230 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Death in infancy, Polycystic liver disease, Pancreatic fibrosis... |
OMIM:208500 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop... |
ORPHA:3426 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Pers... |
OMIM:314390 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abdominal situs inversus |
ORPHA:2062 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Vascul... |
ORPHA:2924 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Patent ductus arteriosus, Cholestasis, Perimembranous ventricular septal defect, De... |
OMIM:608104 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... |
OMIM:618329 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... |
ORPHA:26791 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displaceme... |
ORPHA:2377 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:2863 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Ventricular septal defect,... |
OMIM:208085 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia, Polysplenia |
OMIM:615482 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia, Pol... |
OMIM:263210 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Multiple pulmonary c... |
ORPHA:400 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale... |
OMIM:600001 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia |
OMIM:606763 |
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 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Myoglobinuria, Dilat... |
ORPHA:71212 |
Rhyns Syndrome |
|
Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, P... |
ORPHA:264580 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel... |
ORPHA:521219 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc... |
OMIM:619487 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension |
ORPHA:79319 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Hypospadias |
OMIM:245550 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy... |
OMIM:614922 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... |
ORPHA:363444 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Abdominal situs inversus |
ORPHA:2108 |
Mednik Syndrome |
|
Death in infancy, Cholestasis, Hepatic fibrosis, Cirrhosis, Death in childhood, Neonatal death |
OMIM:609313 |
Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Hep... |
ORPHA:541423 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
Syndromic Diarrhea |
|
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Splenomegal... |
ORPHA:84064 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... |
ORPHA:730 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, ... |
ORPHA:3186 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615444 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Death in infancy, Proteinuria, Pericar... |
OMIM:212065 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis |
OMIM:619484 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Renpenning Syndrome |
|
Heterotaxy, Hypospadias, Decreased testicular size |
ORPHA:3242 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus... |
OMIM:613686 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr... |
OMIM:617093 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cholestasis, C... |
OMIM:615895 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... |
OMIM:613610 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kid... |
OMIM:614091 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Renal cyst, Bile duct pro... |
OMIM:261515 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesic... |
OMIM:618278 |
Donohue Syndrome |
|
Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia |
OMIM:246200 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert... |
ORPHA:171 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Porta... |
OMIM:619377 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Dilated cardiomyopathy, Hepatic fibrosis, Pulmonary fibrosis |
OMIM:613989 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... |
OMIM:200995 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Abnormality of the pancreas, ... |
OMIM:222470 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ... |
OMIM:173900 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Meckel Syndrome 14 |
|
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, St... |
ORPHA:101330 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Death in infancy, Elevated circula... |
OMIM:300972 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Atrial sep... |
OMIM:619991 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp... |
ORPHA:186 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... |
OMIM:249000 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis |
ORPHA:79322 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia |
ORPHA:2257 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnorm... |
OMIM:613390 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar... |
ORPHA:488618 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver |
ORPHA:234 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Tetralogy of Fallot, Abnorma... |
ORPHA:1166 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta... |
ORPHA:79303 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Congenital pulmonary airway malfo... |
ORPHA:436252 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy |
ORPHA:848 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Secundum atrial sept... |
OMIM:608779 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Cirrhosis, Pulmonary fibrosis, Hepatic necrosis |
OMIM:127550 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... |
OMIM:615993 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova... |
ORPHA:79240 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Arterioven... |
ORPHA:974 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, Chronic hepati... |
ORPHA:231226 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Pheochro... |
ORPHA:1332 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Anomalous ... |
ORPHA:244 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol... |
OMIM:614294 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, CNS foam cells, N... |
ORPHA:333 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Abnormal ... |
OMIM:613658 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Perimembranous ventricular septal defect, Pulm... |
ORPHA:83617 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma... |
ORPHA:247585 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc... |
OMIM:608776 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Decreased liver function, Hepatic... |
OMIM:600666 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath... |
ORPHA:3033 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Polycysti... |
OMIM:263520 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Dilated cardiomyopathy, ... |
ORPHA:231214 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Patent ductus arteriosus, Ren... |
OMIM:269860 |
Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Abnormal pericardium morphology,... |
ORPHA:284 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... |
OMIM:214110 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection... |
ORPHA:2970 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, As... |
ORPHA:99776 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the kidney, Biliary tract abnormality, Abnormality of the ovary, Hepatic fibrosis,... |
OMIM:209900 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta |
OMIM:616145 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal... |
OMIM:614886 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Hepatomegaly, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Atrial... |
ORPHA:290 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Johanson-Blizzard Syndrome |
|
Abnormality of the pancreas, Abnormal cardiac septum morphology, Dextrocardia, Exocrine pancreati... |
ORPHA:2315 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, A... |
ORPHA:90308 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Precocious... |
ORPHA:275761 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... |
ORPHA:209902 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena... |
ORPHA:1335 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal pulmonary ... |
ORPHA:77259 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Situs ... |
ORPHA:564 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Splenomegaly, Abnormality of the spleen, Aortic valve calcification, ... |
ORPHA:2072 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct... |
OMIM:620005 |
Meckel Syndrome, Type 10 |
|
Micropenis, Renal cyst, Hypospadias, Malformation of the hepatic ductal plate |
OMIM:614175 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Recurrent respiratory infections, Bicuspid aortic valve, Malformation of the hepati... |
OMIM:218330 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim... |
ORPHA:508498 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Recurrent respiratory infections, Ureteral duplication, Cholangitis, Pancreatic cys... |
OMIM:266920 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Cat Eye Syndrome |
|
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Biliary atresia, Vesicourete... |
OMIM:115470 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Pulmonary fibrosis |
OMIM:224230 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, C... |
ORPHA:445038 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Death in infancy |
OMIM:614862 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology |
ORPHA:96092 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hypertrophic cardiomyopathy, Per... |
OMIM:618775 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect |
OMIM:618846 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... |
ORPHA:79328 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Vascular dilatation, Abnormal heart morphology, Ovarian cyst, Hepa... |
OMIM:311200 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat... |
OMIM:207900 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Primum atrial septal defect |
OMIM:615272 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Pulmonary hyp... |
OMIM:608022 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration |
ORPHA:48818 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... |
OMIM:124000 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept... |
ORPHA:2255 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot, Abnormal aortic morp... |
ORPHA:1926 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abnormal heart m... |
ORPHA:485405 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, In... |
ORPHA:90062 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hepatic failure |
OMIM:606812 |
Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Stroke-like episode, Cholestatic liver disea... |
ORPHA:79095 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect |
OMIM:618651 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Abnormal intrahepatic bile duct morphology, ... |
ORPHA:363618 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Ureteral duplication, Renal insuff... |
OMIM:608836 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
Glycogen Storage Disease Vii |
|
Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria |
OMIM:232800 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis |
OMIM:194380 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Death in childhood, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias... |
OMIM:243800 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas... |
OMIM:118450 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Hepatic s... |
ORPHA:14 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Marden-Walker Syndrome |
|
Dextrocardia |
OMIM:248700 |
Zellweger Syndrome |
|
Hepatomegaly, Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Hypospad... |
ORPHA:912 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Ventricular septal defect, Eleva... |
OMIM:614866 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of... |
ORPHA:52 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Pagod Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis,... |
ORPHA:991 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, ... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, ... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, ... |
ORPHA:881 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis |
OMIM:612518 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cyst, Coarctation of aorta, Renal cortical cys... |
ORPHA:1692 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coa... |
OMIM:180849 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atr... |
OMIM:618316 |
Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis |
OMIM:615451 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, Polysplenia |
OMIM:612776 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Dilation of Vircho... |
OMIM:615273 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... |
OMIM:615355 |
Czeizel-Losonci Syndrome |
|
Dextrocardia |
ORPHA:2437 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... |
OMIM:614817 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis |
OMIM:614017 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis |
OMIM:615481 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Death in early adulthood, Hepatomegaly |
OMIM:619273 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Abnormal heart mo... |
ORPHA:79284 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis |
OMIM:613193 |
Hereditary Hemorrhagic Telangiectasia |
|
Peripheral arteriovenous fistula, Transient ischemic attack, Portal hypertension, Abnormal cerebr... |
ORPHA:774 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,... |
OMIM:617925 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Pancreatic cysts, Abnormality of th... |
ORPHA:1318 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent upper respiratory tra... |
OMIM:209920 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... |
OMIM:618494 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy |
OMIM:160900 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insufficiency |
ORPHA:452 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Joubert Syndrome With Ocular Defect |
|
Dextrocardia |
ORPHA:220493 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries |
OMIM:313850 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia |
ORPHA:1908 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Cyst of the ductus choledochus, Atrioventricular canal defect, Coarctat... |
OMIM:619480 |
Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jau... |
OMIM:613404 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ... |
OMIM:618999 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Multilobulated sple... |
OMIM:601186 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Ventricular septal defect |
ORPHA:2256 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... |
ORPHA:314588 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Knobloch Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent duct... |
OMIM:614576 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Abno... |
ORPHA:3378 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death... |
OMIM:236500 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Pericardial effusi... |
ORPHA:464329 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent upper and lower respiratory tract infections |
ORPHA:171876 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Bicuspid aortic valve... |
ORPHA:261494 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Pituitary adenoma, C... |
ORPHA:805 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Roifman Syndrome |
|
Splenomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly |
OMIM:616651 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Renal dysplasia, Hydroureter, Ventricular septal defect, Decreased response t... |
OMIM:146510 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Verheij Syndrome |
|
Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus |
OMIM:615583 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... |
OMIM:300712 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracer... |
ORPHA:536545 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... |
ORPHA:100086 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis, Recurrent upper respirat... |
ORPHA:264450 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left ... |
ORPHA:464738 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Cherry red spot of th... |
ORPHA:77293 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Triosephosphate Isomerase Deficiency |
|
Death in infancy, Splenomegaly, Jaundice, Death in adolescence, Cholecystitis, Prolonged neonatal... |
OMIM:615512 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620197 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonic stenosi... |
OMIM:608149 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Cryptorchi... |
OMIM:214100 |
Steinfeld Syndrome |
|
Absent gallbladder, Unilateral renal dysplasia, Abnormal heart morphology |
OMIM:184705 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... |
OMIM:300166 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Cholestasis |
ORPHA:232 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Mody |
|
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreati... |
ORPHA:552 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ... |
OMIM:175200 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Renal hy... |
ORPHA:2538 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Recurrent respiratory infections, Cryptorchidism, Recurrent upper respiratory tract infections, C... |
OMIM:300534 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Pancreatic ... |
ORPHA:699 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... |
OMIM:602782 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Ventricular septal defect, Hypospadias, Cryptorchidism, Complete atrioventric... |
OMIM:617063 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis |
ORPHA:2111 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:617159 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis |
OMIM:240300 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Abnormality of the liver |
ORPHA:33276 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B... |
ORPHA:3310 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... |
OMIM:617056 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Cryptorchidism, Renal cyst, Horseshoe kidney, Abnormal vena cava morph... |
ORPHA:166035 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... |
ORPHA:163979 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscro... |
OMIM:270400 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Cor pulmonale, Biliary ... |
OMIM:219700 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Stroke-lik... |
ORPHA:137675 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618870 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97261 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:2473 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi... |
ORPHA:261265 |
Sarcoidosis |
|
Abnormal lung morphology, Nephrocalcinosis, Tubulointerstitial nephritis, Emphysema, Hepatomegaly... |
ORPHA:797 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect |
OMIM:616777 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:288 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... |
OMIM:300963 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly |
OMIM:615673 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Ventricular septal defect |
ORPHA:1458 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus... |
ORPHA:261344 |
Neurofibroma |
|
Enlargement of parotid gland, Neoplasm of the trachea, Abnormal biliary tract morphology, Neoplas... |
ORPHA:252183 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Pat... |
OMIM:220500 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... |
ORPHA:1677 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... |
OMIM:612582 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst,... |
ORPHA:369837 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Atrial septal defect, Varicose veins |
OMIM:617300 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pulmonic stenosis, Pulmon... |
OMIM:301056 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... |
OMIM:611773 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Patent ductus arteriosus, Biliary a... |
ORPHA:96149 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... |
OMIM:192430 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
OMIM:609029 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Restrictive Dermopathy |
|
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... |
ORPHA:1662 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef... |
ORPHA:261290 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal aortic arch morphology, Abnor... |
ORPHA:2059 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Renal ag... |
OMIM:229850 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta |
OMIM:300514 |
Microsporidiosis |
|
Cholangitis, Bronchitis, Pneumonia, Abnormality of the spleen, Abnormality of the parathyroid gla... |
ORPHA:2552 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, S... |
OMIM:235255 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Ventricular septal defect, Abnormality of the kidney, Unilateral ren... |
ORPHA:508488 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Hypoplasia of the thymus, Hepatic steatosis, Parathyroid agenesis, Atelec... |
OMIM:188400 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre... |
OMIM:618268 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morpholog... |
ORPHA:97297 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... |
ORPHA:97362 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal ... |
OMIM:618454 |
Birt-Hogg-Dube Syndrome 1 |
|
Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jau... |
ORPHA:26793 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Trisomy 10P |
|
Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology |
ORPHA:171929 |
Poland Syndrome |
|
Atrial septal defect, Abnormality of the liver, Dextrocardia |
ORPHA:2911 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Renal cyst, Coar... |
OMIM:617260 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carci... |
OMIM:193300 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... |
OMIM:201000 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... |
OMIM:130650 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral... |
ORPHA:567 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/... |
ORPHA:2092 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Arteriovenous malformation |
ORPHA:137608 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... |
ORPHA:1988 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... |
OMIM:620025 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine |
OMIM:263700 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul... |
ORPHA:1900 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol... |
ORPHA:1708 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Atrial septal defect, Death in infancy, Ventricular septal defect, Ureteral duplica... |
ORPHA:373 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect |
ORPHA:79243 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r... |
ORPHA:1596 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... |
ORPHA:96167 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... |
ORPHA:93271 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Complete atrioventricular canal defect, M... |
OMIM:151100 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Hypopla... |
ORPHA:480880 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal... |
ORPHA:1606 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lym... |
ORPHA:1655 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
OMIM:616368 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:614114 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
ORPHA:96170 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart |
OMIM:618829 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal cyst, Pulmonic s... |
OMIM:257300 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... |
OMIM:601808 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Proteinuria, Elevated circulating growth hormone con... |
ORPHA:79318 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Abnormal pancreatic duct morphology, Pulmonary hypoplasia |
ORPHA:1190 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, Polycystic kidney dyspl... |
OMIM:184260 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis |
OMIM:213700 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Neoplasm of the hear... |
ORPHA:2241 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus ... |
ORPHA:464311 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:609053 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge... |
OMIM:117550 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Hepatic steatosis, Ventricular septal defect |
ORPHA:254346 |
Hamamy Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Atrial septal defect, Complete atrioventricular canal defect |
OMIM:611174 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:99880 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Ves... |
OMIM:616975 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... |
OMIM:619418 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Ventricular septal defect, Renal cyst |
OMIM:614424 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Fetal pyelectasis... |
ORPHA:49 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal heart morphology, Hep... |
ORPHA:354 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Death in infancy, Multicystic kidney dysplasia, Ventricular sep... |
ORPHA:2308 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis,... |
ORPHA:464306 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:143 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, ... |
OMIM:210710 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:447980 |
C Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Pulmonary hypoplasia, Atrial septal defect, Hydrone... |
ORPHA:85201 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect |
OMIM:620024 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Pneumonia, Hypospadias, Ectopic kidney, Proteinuria, Cryptorchidism, A... |
OMIM:122470 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena... |
ORPHA:163956 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... |
OMIM:300998 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal hea... |
ORPHA:2237 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Limb Body Wall Complex |
|
Ventricular septal defect, Abnormal heart morphology, Abnormality of the liver, Atrial septal def... |
ORPHA:2369 |
Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Abnormal lung morphology, Abnormal atrial septum morphology, Prolonge... |
ORPHA:909 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... |
OMIM:113650 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm |
OMIM:130720 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:141127 |
Lathosterolosis |
|
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... |
OMIM:607330 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Hypos... |
ORPHA:955 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... |
OMIM:618460 |
Constricting Bands, Congenital |
|
Ectopia cordis |
OMIM:217100 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirth, Pulmonary hyp... |
OMIM:616300 |
De Barsy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... |
ORPHA:2962 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Hypospadi... |
OMIM:312870 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Death in infancy, Hypoplasia of penis, Ventricular septal defec... |
ORPHA:1507 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter, Nephro... |
ORPHA:798 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Tuberous Sclerosis 1 |
|
Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Pu... |
OMIM:191100 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma, Supernumerary nipple |
ORPHA:1001 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Cryptorchidism, Splenomegaly, A... |
ORPHA:116 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren... |
OMIM:617140 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... |
OMIM:100300 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... |
OMIM:164280 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s... |
ORPHA:2745 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:277600 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... |
OMIM:613254 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao... |
ORPHA:453499 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79345 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney... |
OMIM:606232 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Tetralogy of Fallot,... |
ORPHA:2044 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Pol... |
OMIM:102500 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Abnormal heart morpholog... |
ORPHA:97360 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect, Interface hepatitis |
OMIM:243150 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Pulmonary artery at... |
OMIM:616894 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... |
OMIM:617107 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm |
ORPHA:261330 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Bicuspid aortic valve, Thoracic aortic aneur... |
OMIM:613795 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect |
OMIM:612530 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hyperechogenic pancreas |
OMIM:605039 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pa... |
ORPHA:2750 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vascular dilatation |
OMIM:607323 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Recurrent respiratory infections, Multicystic kidney dysplasia, Supern... |
ORPHA:261349 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla... |
ORPHA:733 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Renal angi... |
ORPHA:538 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:79329 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Multicystic kidney dysplasia, Abnormal lung loba... |
ORPHA:3301 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Abnormal heart morphology, A... |
ORPHA:1465 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
OMIM:222448 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morph... |
ORPHA:1052 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... |
OMIM:608328 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... |
ORPHA:209905 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosu... |
OMIM:268300 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Pulmonary hypoplasia, Renal cyst |
OMIM:615636 |
Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnorma... |
ORPHA:97214 |
Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
Livedoid Vasculopathy |
|
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke |
ORPHA:542643 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
3Mc Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:257920 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Unilateral renal agenesi... |
ORPHA:500150 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol... |
ORPHA:500095 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Pancreatic cysts, Patent ductus arteriosus, Coarctation of aorta, Hepa... |
OMIM:274000 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... |
ORPHA:96121 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Abnormal renal physiology, Micropenis, Urogenital sin... |
ORPHA:96176 |
Proteus-Like Syndrome |
|
Venous insufficiency, Splenomegaly |
ORPHA:2969 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Venous malformation |
OMIM:612918 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Renal cyst, Horseshoe kidney... |
OMIM:117650 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... |
ORPHA:124 |
Renpenning Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
OMIM:309500 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the spleen, Abnorm... |
ORPHA:2162 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Glomerulopathy, Renal in... |
ORPHA:534 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect |
OMIM:619229 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu... |
ORPHA:3015 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Hepatic failure, Ventricular septal defect |
ORPHA:506 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta |
ORPHA:1199 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Abnormal cerebral vascular morphology |
ORPHA:276280 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal... |
ORPHA:3047 |
Jacobsen Syndrome |
|
Atrial septal defect, Annular pancreas, Ventricular septal defect |
OMIM:147791 |
Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:616546 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Dilated car... |
ORPHA:273 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... |
ORPHA:857 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Femoral-Facial Syndrome |
|
Ventricular septal defect, Renal agenesis, Abnormal renal collecting system morphology, Cryptorch... |
OMIM:134780 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:352665 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:769 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul... |
OMIM:245150 |
Peters-Plus Syndrome |
|
Ureteral duplication, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Cryptorchidis... |
OMIM:261540 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta |
OMIM:105650 |
Menkes Disease |
|
Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid artery morphol... |
ORPHA:565 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect |
OMIM:609460 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Multicystic kidney dysplasia, Patent ductus arteriosus, Ventricular septal ... |
OMIM:300373 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:353281 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
ORPHA:3138 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... |
ORPHA:466791 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Biliary tract abnormali... |
OMIM:194190 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypop... |
OMIM:200980 |
Trisomy 18 |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3380 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363958 |
Degcags Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Cholestasis, Hepatosplenomegal... |
OMIM:619488 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... |
OMIM:163950 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Marshall-Smith Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Dysplastic aortic valve |
OMIM:602535 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect |
OMIM:227645 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... |
ORPHA:444077 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
Oculodentodigital Dysplasia |
|
Ventricular septal defect |
ORPHA:2710 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... |
OMIM:308205 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... |
ORPHA:459070 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, A... |
ORPHA:744 |
Trichothiodystrophy |
|
Cardiomyopathy, Ventricular septal defect |
ORPHA:33364 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:261337 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatic steatosis, Ventricular septal defect, Mitral atresia, Portal hypertension, Ascending aort... |
OMIM:619503 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fis... |
OMIM:236700 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma... |
ORPHA:1556 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261537 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Immunodeficiency 96 |
|
Recurrent lower respiratory tract infections, Multicystic kidney dysplasia |
OMIM:619774 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert... |
OMIM:218040 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:2152 |
Okamoto Syndrome |
|
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... |
ORPHA:2729 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261552 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... |
OMIM:107480 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... |
OMIM:616268 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:353277 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aort... |
ORPHA:96334 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic valve, Jaundice, Dilata... |
OMIM:619475 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... |
OMIM:235730 |
Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Transposition of the g... |
OMIM:256520 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve |
OMIM:271640 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def... |
ORPHA:3472 |
Occipital Horn Syndrome |
|
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Vascular dilatation |
ORPHA:198 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Renal ... |
ORPHA:199 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Pulmonary hypoplasia, At... |
OMIM:606170 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Fraser Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism,... |
ORPHA:2052 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h... |
ORPHA:268261 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:147920 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cryptorchidism, Hypospadias, Renal cyst |
ORPHA:495875 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arter... |
OMIM:601803 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
C Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horsesh... |
ORPHA:1308 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Roberts Syndrome |
|
Cryptorchidism, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Patent d... |
OMIM:164210 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Coffin-Siris Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:135900 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
ORPHA:672 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Decreased testicular size |
OMIM:615287 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency |
ORPHA:1106 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Cryptorchidism, Pneumothorax, Renal hypoplasia, Pulmonary hypoplasia, ... |
ORPHA:3404 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Sotos Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Prolonged neonata... |
ORPHA:821 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst |
OMIM:113620 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
OMIM:181450 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:620330 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection |
ORPHA:285 |
Yunis-Varon Syndrome |
|
Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale |
OMIM:216340 |
Norrie Disease |
|
Venous insufficiency |
ORPHA:649 |