| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death |
OMIM:620203 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... |
ORPHA:1457 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... |
OMIM:601927 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... |
ORPHA:3304 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... |
ORPHA:3400 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... |
ORPHA:1354 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... |
OMIM:620642 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... |
OMIM:208530 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... |
OMIM:212093 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... |
ORPHA:185 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... |
OMIM:132900 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
| Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... |
ORPHA:99094 |
| Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... |
OMIM:179613 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation |
ORPHA:1110 |
| Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... |
OMIM:115197 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... |
OMIM:613426 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus, Neonatal death |
OMIM:608104 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Aortic aneurysm, Multiple muscular ventricular septal defects, Atrial septa... |
OMIM:620070 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... |
ORPHA:3426 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... |
ORPHA:363444 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... |
ORPHA:99050 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1166 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... |
OMIM:600001 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:618205 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Congenital Myopathy 11 |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Li-Campeau Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... |
OMIM:616276 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:401935 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... |
OMIM:614823 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:270100 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... |
OMIM:306955 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... |
OMIM:615996 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... |
OMIM:612946 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:614262 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... |
OMIM:605376 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... |
OMIM:608978 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect |
ORPHA:101028 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... |
OMIM:612561 |
| Methimazole Embryofetopathy |
|
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:1923 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Neonatal death, Ventricular septal defect |
OMIM:615524 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... |
OMIM:618652 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
| Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
| Sotos Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... |
OMIM:117550 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... |
OMIM:616652 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... |
ORPHA:371428 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se... |
ORPHA:392 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Atrial septal defect, Histiocytoid cardiomyopathy, Ventricular septal defect |
OMIM:309801 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect |
OMIM:615502 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Ascending aortic dissection, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:2209 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... |
ORPHA:244 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... |
OMIM:613834 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:613870 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect |
OMIM:249270 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect |
OMIM:614886 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect |
OMIM:300887 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Ventricular septal defect |
OMIM:620210 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... |
ORPHA:391641 |
| Noonan Syndrome 9 |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1926 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... |
ORPHA:3097 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Coarctati... |
ORPHA:1120 |
| Cardiomyopathy, Dilated, 2J |
|
Dilated cardiomyopathy, Secundum atrial septal defect |
OMIM:620635 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect |
OMIM:619227 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... |
OMIM:619910 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Hoxha-Aliu Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect |
OMIM:620662 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect |
OMIM:618142 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... |
ORPHA:2847 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... |
OMIM:601186 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... |
OMIM:619149 |
| Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
| Phace Association |
|
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... |
OMIM:606519 |
| Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Vascular ring, Ventricular septal defect |
OMIM:603387 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus... |
OMIM:601005 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1727 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept... |
OMIM:615355 |
| Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:241310 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect |
OMIM:616145 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
| Alg12-Cdg |
|
Biventricular hypertrophy, Patent ductus arteriosus, Patent foramen ovale, Muscular ventricular s... |
ORPHA:79324 |
| Tetrasomy 15Q26 |
|
Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus |
OMIM:614846 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... |
ORPHA:508498 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... |
ORPHA:2326 |
| Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:303350 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion |
OMIM:618773 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Atrial septal defect |
OMIM:620247 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal de... |
OMIM:301056 |
| Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... |
ORPHA:3282 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Ventricular septal defect |
ORPHA:2876 |
| Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse |
OMIM:604308 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:608779 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Pate... |
OMIM:606003 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Alagille Syndrome 2 |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis |
OMIM:610205 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:616867 |
| Fibromuscular Dysplasia, Arterial |
|
Stroke, Arterial fibromuscular dysplasia, Aortic dissection |
OMIM:135580 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... |
ORPHA:1880 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... |
OMIM:618494 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot |
ORPHA:3033 |
| Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Venous insufficiency, A... |
ORPHA:90308 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Chromosome 5Q12 Deletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:615668 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect |
OMIM:618651 |
| Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid valve, Ventricular... |
OMIM:157800 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul... |
ORPHA:3427 |
| Prune Belly Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:2970 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... |
OMIM:264480 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... |
ORPHA:91387 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale,... |
ORPHA:163956 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Right atrial enlargement, Aortic aneurysm, Restrictive cardiomyopathy, Myocardial sarcomeric disa... |
OMIM:612422 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Overriding aorta |
ORPHA:3186 |
| Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... |
OMIM:612474 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot |
OMIM:613630 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... |
ORPHA:402075 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... |
OMIM:617159 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... |
OMIM:600460 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... |
OMIM:618164 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... |
ORPHA:980 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect |
OMIM:614857 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, Coarctation ... |
ORPHA:2008 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:617349 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Secundum atrial septal defect, Muscular ventricular septal defect, Left v... |
OMIM:142900 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2328 |
| Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta |
OMIM:301022 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, ... |
ORPHA:363705 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... |
ORPHA:329224 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot |
ORPHA:1381 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta... |
OMIM:619825 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect |
OMIM:619995 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
| Fumarase Deficiency |
|
Perimembranous ventricular septal defect |
OMIM:606812 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus |
OMIM:619301 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:2519 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:500159 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis |
OMIM:618223 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect |
OMIM:620511 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ... |
OMIM:314390 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... |
OMIM:615009 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Tetralogy of Fallot, Muscular ventricular septal defect, Patent foramen ovale, Ventricular septal... |
OMIM:210710 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... |
OMIM:617168 |
| Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Patent foramen ovale, Ventri... |
OMIM:300855 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618870 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Charge Syndrome |
|
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... |
OMIM:214800 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C... |
OMIM:616564 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... |
ORPHA:449400 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
