Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... |
OMIM:614779 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... |
OMIM:608978 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Isomerism, Urethral atresia, Transposition of the great arteries, Pulmonary hypopla... |
OMIM:314390 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... |
OMIM:619657 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Abnormality of the pancreas, Cryptorchidism, Spi... |
ORPHA:1926 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, H... |
ORPHA:2470 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal... |
ORPHA:1666 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Hydronephrosis, Hypoplastic left heart, Transpositi... |
ORPHA:1727 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Goiter |
OMIM:617577 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Death in child... |
OMIM:253300 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... |
OMIM:264480 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery |
ORPHA:1203 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... |
OMIM:614876 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ureteral duplication, Ventricular septal defect... |
OMIM:600001 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defec... |
ORPHA:2255 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus, Annular pancreas |
OMIM:618162 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma... |
OMIM:615415 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Recurrent upper respiratory tract infection... |
ORPHA:264450 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Ectopic kidney, Thrombocytopenia, Patent ductus arteriosus, Cryptorchidism, Reticul... |
OMIM:227646 |
Feingold Syndrome |
|
Abnormality of the spleen, Patent ductus arteriosus, Annular pancreas |
ORPHA:1305 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... |
OMIM:164280 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Dextrocardia, Situs inversus totalis, Jaundice, Stage 5 chroni... |
OMIM:613095 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Jacobsen Syndrome |
|
Death in infancy, Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular sep... |
ORPHA:2308 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Midshaft hypospadias, Anterior hypopituit... |
ORPHA:2863 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial ... |
OMIM:147791 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic ca... |
ORPHA:251071 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Spina bifida oc... |
OMIM:201000 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Patent ductus arteriosus, Pituitary adenoma, Biliary a... |
ORPHA:96149 |
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 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonat... |
OMIM:613730 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Coarctation of aort... |
ORPHA:3426 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,... |
OMIM:617925 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Cardiomegaly, Abnormal cardiac septum morphology, Urinary reten... |
ORPHA:97297 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Pate... |
OMIM:267010 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... |
ORPHA:101028 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec... |
OMIM:617063 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal... |
ORPHA:1606 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Neonatal death, Pulmonary artery atresia, Pe... |
OMIM:601186 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Spina bifida occulta, Transposition of the great arteri... |
OMIM:617877 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... |
ORPHA:2257 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the pancreas, Ab... |
ORPHA:2315 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro... |
OMIM:618845 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Sp... |
ORPHA:99776 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lo... |
ORPHA:1120 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Pulmonary hypoplasia, Neonata... |
OMIM:615524 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic bi... |
ORPHA:1296 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Pulmonary sequestration, Atrial... |
OMIM:618330 |
Thoracoabdominal Syndrome |
|
Hypospadias, Patent ductus arteriosus, Anencephaly, Pulmonary hypoplasia, Transposition of the gr... |
OMIM:313850 |
Hamamy Syndrome |
|
Hypoparathyroidism, Microcytic anemia, Complete atrioventricular canal defect, Cryptorchidism, Hy... |
OMIM:611174 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Streak ovary, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Neph... |
ORPHA:798 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra... |
OMIM:612946 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Microp... |
OMIM:619189 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hypoplasia, Dextroca... |
OMIM:613686 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Thromb... |
ORPHA:290 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Mi... |
OMIM:606003 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... |
OMIM:277380 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... |
OMIM:615994 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Elevated hepatic transaminase |
OMIM:619967 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Abnormal morphology of the great vessels, Annular pancreas |
ORPHA:488642 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Supernumerary nipple, Cryptorchidism, Coarctation of aorta, Micropenis, Atrioventri... |
OMIM:618929 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctat... |
OMIM:620210 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Ventricular septal defect, Unilateral renal agenesis... |
ORPHA:508488 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Abnormal heart morphology, Atrial sept... |
ORPHA:401935 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... |
ORPHA:289 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... |
OMIM:616589 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistu... |
OMIM:614294 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Urinary incontinence |
ORPHA:476126 |
Thakker-Donnai Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Cryptorchidism, M... |
OMIM:151100 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Cryptorchidism, Abnormal aortic morphology, Multiple renal cysts, Vesi... |
ORPHA:1166 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ... |
ORPHA:2970 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d... |
ORPHA:90308 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Ventricular septal defect,... |
OMIM:208085 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... |
OMIM:253800 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Ureteral agenesis, Congenital megaureter, Pulmonary... |
ORPHA:2437 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Ventricular septal defect, Elevated circulating... |
OMIM:280000 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypospadias, Do... |
OMIM:220210 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the g... |
ORPHA:96097 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Parach... |
OMIM:618316 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Renpenning Syndrome |
|
High, narrow palate, Heterotaxy, Anal atresia, Cleft palate |
ORPHA:3242 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... |
OMIM:610198 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary ven... |
OMIM:617478 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:179613 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... |
ORPHA:51208 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, M... |
ORPHA:96092 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar... |
ORPHA:488618 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Pancytopenia, Ventricular septal d... |
OMIM:614576 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Annular pancreas |
OMIM:268400 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,... |
OMIM:619123 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... |
ORPHA:261197 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular ... |
OMIM:613404 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis |
OMIM:601355 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Pulmonary hypoplasia, Micropenis |
OMIM:248700 |
3C Syndrome |
|
Death in infancy, Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defec... |
ORPHA:7 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... |
OMIM:618624 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri... |
OMIM:618652 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Tetralogy Of Fallot |
|
Cryptorchidism, Tetralogy of Fallot |
ORPHA:3303 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Proteus Syndrome |
|
Lymphangioma, Splenomegaly, Venous malformation |
OMIM:176920 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux |
ORPHA:228399 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Patent ductus a... |
ORPHA:452 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Thrombocytop... |
OMIM:620184 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph... |
ORPHA:33276 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot |
OMIM:300887 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... |
ORPHA:3304 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Coarctati... |
OMIM:618494 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri... |
ORPHA:3474 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Ventricular septal defect, Spina bifida, Cryptorchidism, Patent ductus arteriosu... |
OMIM:256520 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... |
OMIM:619371 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ... |
OMIM:619167 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Jaundice... |
ORPHA:1667 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleural effusion, Pulmonic s... |
OMIM:615355 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, Polysplenia |
OMIM:612776 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Atrial septal defect, H... |
ORPHA:1842 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... |
OMIM:602782 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Patent ductus arterios... |
OMIM:617303 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Renal cyst, Bile duct prolife... |
OMIM:611134 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Rena... |
ORPHA:75389 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... |
OMIM:601927 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Vesicoureteral reflux, Hors... |
OMIM:115470 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Renal cyst, Horseshoe kidney, Intrahepatic bi... |
OMIM:614815 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands,... |
ORPHA:1662 |
Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis |
OMIM:615451 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Megalencephaly |
|
Atrial septal defect, Macroorchidism, Long penis |
ORPHA:2477 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Micropenis |
OMIM:613870 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Incr... |
ORPHA:84064 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Hypospadi... |
OMIM:312870 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Carpenter Syndrome 2 |
|
Dextrocardia, Supernumerary nipple, Situs inversus totalis, Bilateral cryptorchidism, Patent duct... |
OMIM:614976 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Ventricular septal defect, ... |
ORPHA:2461 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
ORPHA:3282 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Abnormal mesentery morphology, Re... |
ORPHA:2256 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Cryptorchidism, Abnormal heart morphology |
ORPHA:352490 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... |
OMIM:616651 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias |
OMIM:615985 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Patent ductus arteriosus, Vesicoureteral reflux, Lymphangi... |
ORPHA:1571 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Ectopic kidney, Pa... |
OMIM:192350 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Patent ductus arte... |
ORPHA:500159 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Ventricular septal defect |
OMIM:616816 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal... |
OMIM:614886 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Normochro... |
OMIM:614857 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... |
OMIM:608149 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase |
OMIM:615160 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Cryptorchidism, Hypospadias, Coronal hypospadias |
ORPHA:921 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Micropenis, Pe... |
OMIM:619503 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Abnormality of the ureter |
ORPHA:1035 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect |
ORPHA:40366 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... |
OMIM:251290 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... |
OMIM:612541 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect |
OMIM:617364 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis |
OMIM:613193 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Atrial septal defect... |
OMIM:618950 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615504 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale, Vesicoureteral reflux, Renal hypoplasia |
OMIM:616854 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615505 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Dextrocardia, Unilateral renal agenesis, Cryptorchidism, Stage 2 chr... |
OMIM:620305 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... |
ORPHA:1908 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septa... |
OMIM:620070 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... |
OMIM:614868 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Abnormality of the ureter, Cholestasis, ... |
ORPHA:52 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart |
ORPHA:2772 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Abno... |
ORPHA:3378 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Atria... |
ORPHA:329224 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate... |
OMIM:605275 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal... |
OMIM:609029 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Heterotaxy, Interrupted inferior vena cav... |
OMIM:618846 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Dextrocardia |
ORPHA:220493 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pi... |
ORPHA:97289 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Cryptorchid... |
ORPHA:3310 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Vesicoureteral ... |
OMIM:609053 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic l... |
OMIM:235255 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron... |
OMIM:614846 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arter... |
OMIM:617516 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Decreased glomerular filtration rate, Pancreatic c... |
ORPHA:730 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia... |
OMIM:617300 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Acrocardiofacial Syndrome |
|
Death in infancy, Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, C... |
ORPHA:2008 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Vesicou... |
OMIM:617159 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus |
OMIM:619143 |
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 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... |
OMIM:610978 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Unilateral renal agenesis, Muscular ventricular septal defect, Patent ductus arterio... |
ORPHA:363444 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect, Vesicoureteral reflux, Distal ure... |
ORPHA:2549 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Encephalocele, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs |
ORPHA:93274 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Cryptorchidism |
ORPHA:466926 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
ORPHA:3306 |
Poland Syndrome |
|
Encephalocele, Hypospadias, Dextrocardia, Cryptorchidism, Vesicoureteral reflux, Renal hypoplasia... |
ORPHA:2911 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Horseshoe kidney |
OMIM:218350 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:615102 |
16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abnormal heart m... |
ORPHA:485405 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Bilateral lung agenesis, M... |
OMIM:618021 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig... |
OMIM:614261 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morpholo... |
OMIM:615009 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Atrial... |
ORPHA:2519 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a... |
OMIM:603467 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Pulmonic ste... |
OMIM:618282 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... |
OMIM:612528 |
Lowry-Maclean Syndrome |
|
Hypospadias, Bilateral cryptorchidism, Abnormality of the abdominal organs, Coarctation of aorta,... |
ORPHA:2409 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Cryptorchidism, Atrioventricular canal defect |
OMIM:613792 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas... |
OMIM:118450 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism... |
ORPHA:500 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... |
OMIM:617751 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Absent pulmonary artery, Patent ductus ar... |
OMIM:600460 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta |
ORPHA:1923 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia |
ORPHA:2655 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Pate... |
ORPHA:2473 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Hypospadias, Cryptorchidi... |
OMIM:301056 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel... |
OMIM:613001 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
Tarp Syndrome |
|
Atrial septal defect, Subdural hemorrhage, Horseshoe kidney, Hepatic failure, Neonatal death, Tet... |
OMIM:311900 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Hypospadias, Large placenta, Patent ductus arteriosus, Abnormal lung m... |
ORPHA:1708 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, H... |
OMIM:300166 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat... |
ORPHA:60041 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... |
OMIM:243150 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, Po... |
ORPHA:371428 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic... |
ORPHA:139466 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Nephrocalcinosis |
ORPHA:500533 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Situs inversus total... |
ORPHA:991 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarctation of aorta, ... |
OMIM:616145 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Nephrocalcinosis |
OMIM:611087 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef... |
ORPHA:26793 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Recurrent pneumonia, Atrial septal... |
OMIM:619314 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Paten... |
OMIM:620024 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... |
OMIM:612582 |
Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Ventricular septal defect |
OMIM:602501 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Aplastic anemia, Ventricular septal defect, Patent ductus arteriosus, Abnormal ... |
OMIM:300514 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Abnormal heart morphology, H... |
ORPHA:314588 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal... |
ORPHA:96170 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim... |
OMIM:619573 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus |
OMIM:615583 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Patent foramen ovale |
OMIM:618832 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... |
OMIM:619418 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Lymphangioma, Arteriovenous malformation, Ovarian neoplasm |
ORPHA:137608 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Vesicoureteral reflux |
OMIM:615879 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Vesicoureteral reflux, Abnormal... |
ORPHA:453499 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Patent ductus arter... |
OMIM:220500 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atelectasis, Ane... |
OMIM:269860 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ureteral duplication, Ventricular septal defect, Eosinophilia, Spina bifida, Pa... |
OMIM:274000 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Proteinuria, Ventricular septal defect, Hematuria, Tubulointerstitial nephritis... |
OMIM:616901 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Bladder diverticul... |
ORPHA:536545 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... |
ORPHA:85202 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Death in infancy, Vascular dilatation, Atelectasis, Recurrent pneumonia, Hypopl... |
OMIM:613177 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:610733 |
White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Hydron... |
ORPHA:457193 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplasia, Atrial s... |
OMIM:145420 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Decr... |
OMIM:601808 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:272440 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Large place... |
OMIM:222470 |
Joubert Syndrome 3 |
|
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618870 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Horseshoe kidney |
OMIM:613680 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Death in childhood, Umbilica... |
OMIM:612938 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchidis... |
ORPHA:1655 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Left superior vena cava draining to coronary sinus |
OMIM:611961 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosis |
OMIM:615673 |
Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia |
OMIM:202650 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Atrial septal d... |
OMIM:618109 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Patent foramen ovale |
OMIM:618821 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Umbilical h... |
ORPHA:404443 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Cryptorchidism, Anomalous pulm... |
OMIM:616368 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Ventricular septal defe... |
ORPHA:209905 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... |
ORPHA:2260 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, Hypoplastic left heart, Aortic valve ... |
OMIM:617660 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Recurrent respiratory infections |
OMIM:619383 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect |
OMIM:618354 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism |
ORPHA:776 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis |
ORPHA:896 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Ventricular septal defect, Eleva... |
OMIM:614866 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Hypospadias, Cryptorchidism, Coarctation of a... |
OMIM:617602 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery hypoplasia,... |
OMIM:300963 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Atrioventricular canal defect, Cryptorchidism |
OMIM:619135 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Bilateral lung agenesis, Conge... |
OMIM:611812 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial septal defect, Hepatic steatosis |
ORPHA:254346 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect |
ORPHA:1458 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Cry... |
ORPHA:251066 |
Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion, Chylothorax, Atrial septal defe... |
OMIM:616843 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of penis |
ORPHA:2328 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Neurogenic bladder, Elevated circulating aspartate aminotransfera... |
OMIM:608779 |
Kabuki Syndrome 2 |
|
Horseshoe kidney, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular... |
OMIM:300867 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Hypospadias, ... |
ORPHA:508498 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Seckel Syndrome 9 |
|
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... |
OMIM:616777 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... |
OMIM:620005 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale |
ORPHA:88630 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... |
ORPHA:1677 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Thrombocytopen... |
ORPHA:505248 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale |
OMIM:620075 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic f... |
ORPHA:564 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Oligosacchariduria, Hepatosplenomegaly |
ORPHA:397709 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Microp... |
OMIM:244300 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa... |
OMIM:616866 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
OMIM:617452 |
Zellweger Syndrome |
|
Hepatomegaly, Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Hypospad... |
ORPHA:912 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Unilatera... |
OMIM:192430 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Bone marrow hypocellularity, Primum atrial septal defect |
OMIM:615272 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Recurrent respiratory infections |
ORPHA:1790 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Proteinuria |
ORPHA:2143 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Umbilical hernia, Patent fo... |
ORPHA:369891 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Nephrocalcinosis, Neutropenia, Atrial septal defect, Recurrent lower re... |
OMIM:618005 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect |
OMIM:147800 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia |
OMIM:619980 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Pu... |
OMIM:616897 |
Noonan Syndrome 5 |
|
Atrial septal defect, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:611553 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, A... |
ORPHA:96167 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... |
ORPHA:2637 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial dissection, Umbilical her... |
ORPHA:1900 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Unilateral rena... |
OMIM:617190 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr... |
OMIM:619758 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology, Ventricular septal defect, Recurrent aspiration pneumonia |
ORPHA:79243 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Ventricular septal de... |
ORPHA:261494 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Supernumerary nipple, Unilateral renal agenesis, Secundum atria... |
OMIM:619951 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ... |
ORPHA:163956 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... |
OMIM:300712 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus... |
ORPHA:363528 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left ... |
ORPHA:464738 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
OMIM:617635 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Hypospadias, Bilateral cryptorchidis... |
OMIM:300998 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... |
ORPHA:261311 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis... |
OMIM:208500 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
ORPHA:505237 |
Periventricular Nodular Heterotopia 7 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:617201 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosu... |
ORPHA:2745 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Cryptorchidism, Horseshoe kidney, Renal cyst, Abnormal vena cava morph... |
ORPHA:166035 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect |
OMIM:619908 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal lung l... |
OMIM:614114 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... |
ORPHA:79330 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... |
OMIM:617022 |
Alg9-Cdg |
|
Hepatomegaly, Ventricular septal defect, Ureteral hypoplasia, Pericardial effusion, Abnormal lung... |
ORPHA:79328 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Hydrocele testis, Neonatal death, Patent foramen ... |
OMIM:620244 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... |
OMIM:117550 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Thrombocytopenia, Patent ductus arter... |
ORPHA:163979 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Bdv Syndrome |
|
Atrial septal defect, Cryptorchidism, Micropenis |
OMIM:619326 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... |
ORPHA:2969 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Polycysti... |
OMIM:263520 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Hydroureter, Ventricular septal defect, Decreased response to growth hormone ... |
OMIM:146510 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Jaundice, Vasculitis, Le... |
ORPHA:2331 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Abnormality of the ureter, Ventricular septal defect, Polycystic ovaries |
ORPHA:1770 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Abnormal heart morphology... |
ORPHA:457279 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... |
ORPHA:391487 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy |
ORPHA:99868 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... |
ORPHA:2369 |
King-Denborough Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect |
OMIM:619542 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Hypochrom... |
ORPHA:97214 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Perimembranous ventricular sept... |
OMIM:158170 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple |
ORPHA:46627 |
Brachydactyly, Type B1 |
|
Micropenis, Ventricular septal defect |
OMIM:113000 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... |
OMIM:200995 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Nephrolithiasis, Intracr... |
ORPHA:369929 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Hydronephrosis |
OMIM:616449 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Dil... |
ORPHA:2326 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs |
ORPHA:1860 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios... |
ORPHA:354 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Hypospadias, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:1465 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal ... |
ORPHA:567 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cyst, Coarctation of aorta, Renal cortical cys... |
ORPHA:1692 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteri... |
ORPHA:77298 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Cryptorc... |
OMIM:229850 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Vesicoureteral... |
ORPHA:494344 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Vesicoureteral reflux, Pelvic ki... |
OMIM:300707 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Milroy Disease |
|
Hydrocele testis, Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Cryptorchi... |
OMIM:214100 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Patent ductus arteriosus after birth at term, Enuresis nocturna... |
ORPHA:251061 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Vesicoureteral reflux, Hyperechogenic pancreas, ... |
OMIM:605039 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... |
OMIM:613610 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Macroorchidism, Ventricular septal defect |
OMIM:309520 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Abnormality of the splee... |
ORPHA:2538 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Vesicoureteral reflux, Peripheral pulmonary artery stenosis |
OMIM:614749 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Breast aplasia, Tricuspid valve prolapse |
ORPHA:276413 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, ... |
ORPHA:3047 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus... |
ORPHA:261344 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve |
OMIM:619720 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Recurrent upper respiratory tract infections, Ventricular septal defect |
ORPHA:3078 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect, Hypospadias, Abnormality of the urethra, Vesicoureteral r... |
ORPHA:2438 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis |
OMIM:618914 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cryptorchidism, Horseshoe kidney, Pulmonary hypoplasia, Atrial sept... |
ORPHA:2886 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Atrial sept... |
OMIM:607323 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Hypospadias, Pure red c... |
ORPHA:124 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis |
ORPHA:459061 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Hypospadias, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Cryptorchidism, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Death in infancy, Ureteral duplication, Ventricular septal defect, Hepatoblastoma, ... |
ORPHA:373 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neut... |
OMIM:232220 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Micro... |
OMIM:619471 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Vesic... |
OMIM:610443 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta, Atr... |
OMIM:617088 |
Fg Syndrome Type 1 |
|
Hypospadias, Cryptorchidism, Coarctation of aorta, Mitral valve prolapse, Small pituitary gland, ... |
ORPHA:93932 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ... |
OMIM:100300 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Hydro... |
OMIM:614080 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia, Venous malformation, Spinal dysraphism |
OMIM:612918 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Tetralogy of Fa... |
OMIM:153400 |
Chromosome 10Q26 Deletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Atrial septal defect, Micropenis |
OMIM:609625 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infectio... |
OMIM:607143 |
Constricting Bands, Congenital |
|
Encephalocele, Bladder exstrophy, Ectopia cordis, Abnormal lung lobation |
OMIM:217100 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cortical... |
OMIM:211750 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic aplasia |
OMIM:609069 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale |
ORPHA:293939 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defec... |
ORPHA:1507 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni... |
OMIM:300472 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Reticuloc... |
OMIM:613309 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hypospadias, Ventricular septal defect, Supernumerary nipple, C... |
ORPHA:217346 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Micropenis |
OMIM:106260 |
Distal Deletion 10Q |
|
Patent ductus arteriosus, Functional abnormality of the bladder, Vesicoureteral reflux, Horseshoe... |
ORPHA:96148 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospadias, Spina bifida, Cryptorchi... |
ORPHA:84 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, ... |
OMIM:619103 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Pulmonary hypoplasia, Atrial septal defect, Hydrone... |
ORPHA:85201 |
Noonan Syndrome 13 |
|
Atrial septal defect, Cryptorchidism, Mitral valve prolapse |
OMIM:619087 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arte... |
OMIM:610759 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
Ogden Syndrome |
|
Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
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 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coa... |
OMIM:617506 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Meningocele, Renal cyst, Intracranial hemorrhage |
OMIM:614424 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Unilateral cryptorchidism, Ventricular septal defect, Horseshoe... |
OMIM:174300 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... |
ORPHA:230851 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s... |
ORPHA:276280 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... |
OMIM:618748 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst,... |
ORPHA:369837 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
OMIM:617360 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Myelopathy, Functional abnormality of the bladder, Cerv... |
ORPHA:79093 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Patent ductus arteriosus, Atrial septal defect, Unilateral brea... |
OMIM:300968 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hype... |
OMIM:610505 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology |
ORPHA:1292 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
ORPHA:3255 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus |
OMIM:605130 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections |
OMIM:620194 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... |
ORPHA:48818 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Death in childhood, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias... |
OMIM:243800 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Recurrent respiratory infections,... |
ORPHA:17 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... |
ORPHA:79345 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Death... |
OMIM:309500 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect |
ORPHA:447980 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Patent foramen ovale, Hypospadias |
OMIM:619184 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscro... |
OMIM:270400 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:2962 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hypospadias, Recurrent pharyngit... |
ORPHA:79324 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... |
OMIM:188400 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Bilateral renal h... |
ORPHA:49 |
Short Stature-Micrognathia Syndrome |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Penoscrotal hypospadias |
OMIM:617164 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Death in infancy, Neutropenia, Death in childhood, Hyperechogeni... |
OMIM:617941 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal ... |
OMIM:618454 |
Codas Syndrome |
|
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Persi... |
OMIM:619268 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:600268 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Cryptorchidism, Aort... |
OMIM:620025 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent duct... |
OMIM:130720 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cryptorchidism, Micropenis, Ventricular septal defect |
OMIM:620073 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... |
OMIM:618460 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Conge... |
OMIM:136140 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea... |
OMIM:167800 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Tetralogy of Fallot, Renal cyst, Coarctation of aorta, Nephrocalcino... |
ORPHA:2044 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:261279 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Large placenta, Splenomegaly, Cryptorchidism, A... |
ORPHA:116 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Chordee, Atrial septal defect, Micropen... |
OMIM:309801 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... |
ORPHA:261330 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Atrial septal defect, ... |
OMIM:257920 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Cryptorchidism, Epispadias, Atrial septal defect, Common atrium |
OMIM:225500 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent fora... |
OMIM:619488 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Pat... |
ORPHA:2092 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal cyst, Micropenis, Pulmonic steno... |
OMIM:257300 |
Livedoid Vasculopathy |
|
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... |
ORPHA:542643 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ... |
ORPHA:2072 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... |
OMIM:125310 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Atr... |
OMIM:619480 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Reticulocytopenia, Horse... |
OMIM:227645 |
Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Death in infancy, Microvesicular hepatic steatosis, Patent ductus arteriosus, Vesic... |
OMIM:300868 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... |
ORPHA:141127 |
Costello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic... |
ORPHA:3071 |
Rubinstein-Taybi Syndrome 1 |
|
Bilateral cryptorchidism, Aortic isthmus hypoplasia, Hepatic hemangioma, Atrial septal defect, Sp... |
OMIM:180849 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Pulmonary hypoplasia, Supernumerary nipple |
OMIM:612530 |
Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
Distal Deletion 3P |
|
Umbilical hernia, Atrioventricular canal defect, Cryptorchidism |
ORPHA:1620 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Webbed penis, Cryptorchidism, Abnormal h... |
ORPHA:97360 |
White-Sutton Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616364 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
ORPHA:261236 |
Vici Syndrome |
|
Lymphopenia, Recurrent respiratory infections, Dilated cardiomyopathy, Decreased proportion of CD... |
OMIM:242840 |
Monosomy 13Q34 |
|
Common atrium, Hepatic steatosis, Pulmonic stenosis |
ORPHA:96168 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Atrial septa... |
ORPHA:1519 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hydrocele testis, Hydronephrosis, Aortic root aneurysm, Co... |
ORPHA:280633 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre... |
OMIM:618268 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
H Syndrome |
|
Microcytic anemia, Recurrent pharyngitis, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Va... |
ORPHA:168569 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypoc... |
OMIM:301040 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Patent ductus arteriosus, Ves... |
OMIM:616894 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Death in infancy, Bicuspid aortic valve, Absen... |
OMIM:612289 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Cong... |
ORPHA:436252 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus ... |
ORPHA:96121 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Hydronephrosis |
OMIM:115150 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr... |
OMIM:613457 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:2162 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Cryptorchidism, A... |
ORPHA:280 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc... |
ORPHA:79329 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta, Acute lymphoblastic l... |
ORPHA:1052 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morph... |
ORPHA:449432 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, ... |
OMIM:210710 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Atrial... |
ORPHA:769 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posteri... |
OMIM:300000 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Pulmonary hypoplasia, Polycystic kidney dysplasia, Atrial septal defect, Occipital m... |
OMIM:616546 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619121 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Thrombocytopenia, Hypoplastic nipples, Anemia |
ORPHA:261323 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:96191 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Thrombocytopenia |
ORPHA:457351 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defe... |
OMIM:301030 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Recurrent aspiration pneumonia, Recurrent infections due to aspiration |
ORPHA:70 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Polycysti... |
ORPHA:137675 |
Meige Disease |
|
Varicose veins, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Re... |
OMIM:602535 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Breast hypoplasia |
ORPHA:1439 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomeg... |
ORPHA:576 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Clapo Syndrome |
|
Lymphangioma, Varicose veins, Venous malformation |
ORPHA:168984 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Vesicoureteral reflux, Recurrent respiratory infections, Patent ductus arteriosus, Patent foramen... |
OMIM:618076 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Atrial septal defec... |
OMIM:619869 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Bilateral cryptorchidism, Pneumothorax, Micropenis, Ascending tubular ao... |
OMIM:617403 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Prominent superficial veins, Bilateral cryptorchidism, Pneumothorax, Mitral valve prolapse, Biven... |
OMIM:617402 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertr... |
ORPHA:1340 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Umbilical hernia, Ventricular septal defect, Proteinuria |
OMIM:222448 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol... |
ORPHA:261250 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Hy... |
ORPHA:353281 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Abnormal pancreatic duct morphology, Pulmonary hypoplasia |
ORPHA:1190 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Small pituitary gland, Atrial septal defect, Mi... |
ORPHA:398069 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Cryptorchidism, Ureteropelvic junction obstruction, Patent fo... |
OMIM:617557 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Micropenis |
OMIM:620076 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen... |
ORPHA:500095 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic ... |
OMIM:618653 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... |
ORPHA:363965 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Chordee, Hypospadias |
OMIM:618891 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... |
ORPHA:363958 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Anomalous origin of left subcla... |
ORPHA:438213 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren... |
OMIM:617140 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Cryptorchidism, Anencephaly, Atrial septal defect, Hydro... |
ORPHA:3380 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Abnormal lung lobation, Gonadotropin deficiency, Atrial septal defect, Atrioventr... |
ORPHA:672 |
Leigh Syndrome |
|
Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren... |
ORPHA:506 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Myelomen... |
ORPHA:1393 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Vesicoure... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Vesicoure... |
ORPHA:352665 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hepatoblastoma, Hydroureter, Splenopancreatic fusion, Hypoplastic... |
OMIM:269150 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
Fibrochondrogenesis 1 |
|
Stillbirth, Patent foramen ovale |
OMIM:228520 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus ... |
ORPHA:464311 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Restrictive Dermopathy 1 |
|
Atrial septal defect, Ureteral duplication, Hypospadias, Patent ductus arteriosus, Hydropic place... |
OMIM:275210 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Ventricular septal defect, Polycystic kidney dys... |
OMIM:606232 |
Diphallia |
|
Ureteral duplication, Hypospadias, Distal urethral duplication, Cryptorchidism, Epispadias, Penos... |
ORPHA:227 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection |
OMIM:618343 |
Menkes Disease |
|
Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bladder diverticulum, Abnormal ... |
ORPHA:565 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose vei... |
OMIM:617107 |
Renal Nutcracker Syndrome |
|
Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ... |
ORPHA:71273 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect, Cryptorchidism |
ORPHA:2789 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins, Nephritis, Pyelonephritis, Cryptorchidism |
OMIM:314300 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Hypos... |
ORPHA:955 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis,... |
ORPHA:464306 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect |
OMIM:614207 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins on trunk, Mitral v... |
ORPHA:536532 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Ja... |
ORPHA:93111 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ascending tubular aorta aneurys... |
ORPHA:444072 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Hydrocele... |
OMIM:620186 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Supernumerary nipple, Unilateral renal age... |
OMIM:213980 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ... |
ORPHA:99226 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Turner Syndrome |
|
Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ... |
ORPHA:881 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... |
OMIM:163950 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Breast aplasia,... |
ORPHA:3138 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Lymphedema-Distichiasis Syndrome |
|
Proteinuria, Patent ductus arteriosus, Varicose veins, Tubulointerstitial nephritis, Abnormality ... |
ORPHA:33001 |
Larsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Aortic ane... |
OMIM:150250 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Anemia |
ORPHA:79076 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor... |
ORPHA:466791 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Agenesis of pineal gland, Abnormal heart valve morphology, Cryptorchidism,... |
ORPHA:536471 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Atrial septal ... |
OMIM:300373 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
ORPHA:251014 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale, Thyroid hypoplasia, Ectopic thyroid |
OMIM:225250 |
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 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent lower respiratory tract infections, Ventricular septal defect, Death in adolescence |
OMIM:619229 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Coarctation of aorta |
ORPHA:268249 |
Omodysplasia 1 |
|
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Atrial septal defect, Umbil... |
OMIM:258315 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect |
OMIM:207410 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Urinary urgency, Varicose veins, Spastic/hyperactive bladder |
ORPHA:100991 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,... |
OMIM:194050 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:277600 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Pneumonia, Hypospadias, Ectopic kidney, Proteinuria, Cryptorchidism, V... |
OMIM:122470 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Miscarriage, Large placenta, Pulmonary a... |
ORPHA:96334 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:607721 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Decreased testicular size |
ORPHA:251028 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... |
OMIM:272950 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Renal cyst, Horseshoe kidney... |
OMIM:117650 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Proteinuria, Elevated he... |
OMIM:619127 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Splenomegaly... |
ORPHA:2729 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Hy... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Hy... |
ORPHA:353277 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Bilat... |
OMIM:616268 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Dilatation of ... |
ORPHA:459070 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Coarct... |
OMIM:139210 |
Cohen Syndrome |
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Neutropenia, Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Pu... |
ORPHA:1199 |
Costello Syndrome |
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Renal insufficiency, Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Pulmonic ste... |
OMIM:218040 |
Keutel Syndrome |
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Miscarriage, Ventricular septal defect, Recurrent bronchitis, Pulmonary artery hypoplasia, Pulmon... |
OMIM:245150 |
Cerebellofaciodental Syndrome |
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Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Trichothiodystrophy |
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Ventricular septal defect, Recurrent bronchopulmonary infections, Cryptorchidism, Increased mean ... |
ORPHA:33364 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Cerebral arteriovenous malformation, Venous varicosities of celiac and mesenteric vessels, Gastro... |
OMIM:187300 |
Ctcf-Related Neurodevelopmental Disorder |
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Phimosis, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaun... |
ORPHA:363611 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Ventricular se... |
OMIM:147920 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Renal tubular acidosis, Recurrent respiratory infections, Ventricular septal defect, Peripheral p... |
OMIM:619575 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypospadias, Cryptorchidism, Horseshoe kidney, Total anomalous pulmonary venous return, Atrial se... |
OMIM:609945 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Patent foramen ovale,... |
OMIM:300990 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
Chromosome 16P13.3 Duplication Syndrome |
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Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosu... |
OMIM:268300 |
Spondyloocular Syndrome |
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Atrial septal defect, Mitral valve prolapse, Unilateral cryptorchidism, Dysplastic aortic valve |
OMIM:605822 |
Microphthalmia, Syndromic 3 |
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Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Patent duc... |
OMIM:206900 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypospadias, Pa... |
ORPHA:444077 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... |
OMIM:607872 |
Weill-Marchesani Syndrome 2 |
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Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... |
OMIM:608328 |
Distal Deletion 6P |
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Atrial septal defect |
ORPHA:96125 |
Apert Syndrome |
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Cryptorchidism, Overriding aorta, Ventricular septal defect, Hydronephrosis |
OMIM:101200 |
Hajdu-Cheney Syndrome |
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Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Pol... |
OMIM:102500 |
3Q29 Microduplication Syndrome |
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Ventricular septal defect |
ORPHA:251038 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... |
OMIM:615873 |
Gitelman Syndrome |
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Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericar... |
ORPHA:358 |
Coffin-Siris Syndrome 1 |
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Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Ectopic ki... |
OMIM:135900 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Atrial septal defect, Cryptorchidism, Dilation of Virchow-Robin spaces |
OMIM:619512 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Umbilical hernia, Micropenis, Pa... |
OMIM:613884 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Tbck-Related Intellectual Disability Syndrome |
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Neurogenic bladder, Ventricular septal defect, Decreased response to growth hormone stimulation t... |
ORPHA:488632 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth... |
ORPHA:857 |
Mosaic Trisomy 20 |
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Ventricular septal defect, Cryptorchidism, Dysplastic tricuspid valve, Horseshoe kidney, Abnormal... |
ORPHA:1724 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Epi... |
OMIM:615948 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Cryptorchidism, Pneumothorax, Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolapse... |
OMIM:601776 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Unilateral renal agenesi... |
ORPHA:500150 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Cryptorchidism,... |
OMIM:619522 |
Holoprosencephaly 14 |
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Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent d... |
ORPHA:261337 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
Frontometaphyseal Dysplasia 2 |
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Neurogenic bladder, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Pulmonic ste... |
OMIM:617137 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Phimosis, Smal... |
ORPHA:821 |
Occipital Horn Syndrome |
|
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Vascular dilatation |
ORPHA:198 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Supernumerary nipple, Hypospadias, Cryptorchid... |
OMIM:235730 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... |
OMIM:107480 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrial septal defect, Death in infancy, Multicystic kidney dysplasia, Hypospadias, Unilateral ren... |
OMIM:308205 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Neurogenic bladder, Ventricular septal defect |
ORPHA:2710 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect |
OMIM:609460 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
Turnpenny-Fry Syndrome |
|
Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valv... |
OMIM:618371 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Pleural effusion, Leukemia, Chylothorax |
ORPHA:2526 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder |
OMIM:164200 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
OMIM:154400 |
Pseudoaminopterin Syndrome |
|
Asplenia, Cryptorchidism, Patent foramen ovale, Horseshoe kidney |
ORPHA:221120 |
Peters-Plus Syndrome |
|
Ureteral duplication, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Cryptorchidis... |
OMIM:261540 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Biliary tract abnormali... |
OMIM:194190 |
Orofaciodigital Syndrome Type 2 |
|
Atrioventricular canal defect, Central retinal vessel vascular tortuosity |
ORPHA:2751 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Decreased response to growth horm... |
ORPHA:268261 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Cryptorchidism, Patent ductus arteri... |
OMIM:616682 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Supernumerary nipple, Cryptorchidism, Chordee, Patent foramen ovale |
ORPHA:477993 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve |
OMIM:271640 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Death in infancy, Horseshoe kidney, Cryptorchidism |
ORPHA:1106 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Cryptorchidism, Stillbirth, Atrial septal defect, Umbilical hernia, Di... |
OMIM:304120 |
Femoral-Facial Syndrome |
|
Ventricular septal defect, Cryptorchidism, Micropenis, Pulmonic stenosis, Polycystic kidney dyspl... |
OMIM:134780 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Hypospadias, Cryptorchidism, Varicose veins, Ascending tubular ... |
ORPHA:286 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Hypoplastic nipples, At... |
ORPHA:480880 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Jau... |
OMIM:619475 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Pulmonary hypoplasia, At... |
OMIM:606170 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Micropenis, Ventricular septal defect, Ureterocele |
ORPHA:1934 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sirenomelia, Nephrocalcin... |
ORPHA:79500 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
ORPHA:1071 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Renal ... |
ORPHA:199 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis |
OMIM:601321 |
Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Hypospadias, Cryptorchidism, Horseshoe kidney, Tetralogy of Fallot... |
OMIM:619325 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Ebstein anomaly of the tri... |
ORPHA:506358 |
Proboscis Lateralis |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis... |
ORPHA:141099 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Ureteropelvic junction obstruction, Vesicovaginal fistula |
OMIM:300896 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Chalazion |
OMIM:613355 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Secundum atrial septal defect, Lymphangioma, Subarterial ventricular s... |
ORPHA:99646 |
Orofaciodigital Syndrome Type 14 |
|
Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect, Pineal cyst |
ORPHA:513456 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261552 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis |
OMIM:250220 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney,... |
OMIM:164210 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Axillary a... |
OMIM:181450 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arter... |
OMIM:601803 |
Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Recurrent pneumonia, Umbilical hernia, Hydronephrosis, Recurrent bronc... |
OMIM:620330 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Cystocele, Ascending tubular aorta aneurysm, Arterial dissection, Umbilical... |
ORPHA:285 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Yunis-Varon Syndrome |
|
Absent nipple, Ventricular septal defect, Hypospadias, Cryptorchidism, Cardiomyopathy, Hypoplasti... |
OMIM:216340 |
Norrie Disease |
|
Venous insufficiency, Cryptorchidism |
ORPHA:649 |