| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death |
OMIM:620203 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... |
OMIM:601493 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... |
OMIM:601927 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... |
ORPHA:477817 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... |
OMIM:253300 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... |
OMIM:115197 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... |
ORPHA:3304 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... |
OMIM:249670 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... |
OMIM:212093 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... |
ORPHA:1354 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... |
ORPHA:3400 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Nemaline Myopathy 9 |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:615731 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... |
OMIM:613426 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation |
ORPHA:1110 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly |
OMIM:618804 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| 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 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| 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 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... |
OMIM:617022 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Multiple muscular ventricular septal defects, Aortic aneurysm, Limb hypertonia, Atrial septal def... |
OMIM:620070 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:601494 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... |
ORPHA:363444 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... |
OMIM:619167 |
| Atrial Standstill |
|
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... |
ORPHA:1344 |
| Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia, Neonatal death |
OMIM:615524 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... |
OMIM:616276 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... |
OMIM:614262 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... |
OMIM:132900 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Generalized amyotrophy, Dilated cardiomyopathy, Diaphragmatic... |
ORPHA:66634 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect |
OMIM:616816 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1388 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Sick Sinus Syndrome 2 |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse |
OMIM:163800 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
| Sotos Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... |
OMIM:117550 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... |
ORPHA:1457 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridi... |
OMIM:309801 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragmatic hernia, Abnormality of ... |
ORPHA:1166 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect |
OMIM:619227 |
| Meacham Syndrome |
|
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... |
OMIM:608978 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
| Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect, Intrinsic hand muscle atrophy |
OMIM:618569 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Neonatal death |
OMIM:613730 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... |
OMIM:615996 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| 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 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... |
OMIM:612946 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Stillbirth |
OMIM:263630 |
| Li-Campeau Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:401935 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Alg12-Cdg |
|
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Camptodactyl... |
ORPHA:79324 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ... |
OMIM:607598 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect |
OMIM:249270 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... |
ORPHA:391641 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... |
OMIM:614823 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
| Methimazole Embryofetopathy |
|
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:1923 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... |
ORPHA:3282 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Overriding aorta, Coarctation of aorta, Dextrocardia, Camptodactyly |
OMIM:616145 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... |
OMIM:612561 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... |
OMIM:179613 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... |
OMIM:618652 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... |
OMIM:616749 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... |
OMIM:619657 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Flexion... |
OMIM:613870 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Ventricular septal defect |
OMIM:620210 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Noonan Syndrome 9 |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept... |
OMIM:615355 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se... |
ORPHA:392 |
| Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Aortic valve prolapse, Ventricular sep... |
ORPHA:99094 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Congenital diaphragmatic hernia, Patent foramen ovale, Dyspla... |
OMIM:157800 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Overriding aorta |
ORPHA:3186 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
| Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Congenital diaphragmatic hernia, Apical muscular ventricular septal defec... |
OMIM:301022 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Shoulder flexion contracture, Tetralogy of Fallot, Elbow flexion contracture, Muscular ventricula... |
OMIM:210710 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1926 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... |
OMIM:612474 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... |
ORPHA:3426 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect |
OMIM:616037 |
| Williams Syndrome |
|
Myopathy, Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic valve, Overriding aor... |
ORPHA:904 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Congenita... |
ORPHA:3097 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cong... |
OMIM:601186 |
| Holt-Oram Syndrome |
|
Hypoplasia of deltoid muscle, Mitral valve prolapse, Ventricular septal defect, Atrial septal def... |
OMIM:142900 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Phace Association |
|
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... |
OMIM:606519 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1727 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery stenosis, Pul... |
ORPHA:3427 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect |
OMIM:147800 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec... |
OMIM:603387 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus... |
OMIM:601005 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
| Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal... |
ORPHA:1425 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypoplastic left heart, Mitral atresia, Elbow flexion contracture, Muscular ventricular septal de... |
OMIM:619503 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect |
OMIM:618142 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:270100 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Camptodactyly, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Diastasis recti, Ventricular septal defect |
ORPHA:254534 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
| Phaver Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresi... |
ORPHA:2876 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Secundum atrial septal defect, Limb hypertonia, Ventricular septal defect |
OMIM:619909 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect |
OMIM:617450 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Charge Syndrome |
|
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... |
OMIM:214800 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect |
OMIM:614815 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... |
OMIM:306955 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... |
OMIM:618494 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
| Contractural Arachnodactyly, Congenital |
|
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Hip contracture, Mitral ... |
OMIM:121050 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
| Chromosome 5Q12 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia, Patent ductu... |
OMIM:615668 |
| 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 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect |
OMIM:616651 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu... |
OMIM:617201 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Joint contracture of the hand, Ventricular septal defect |
OMIM:113000 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect |
OMIM:619995 |
| Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal cerebral vascular morphology, Abnormal heart valve morphology, Di... |
ORPHA:363705 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
| Prune Belly Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Aplasia of the abdominal wa... |
ORPHA:2970 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... |
OMIM:615474 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Persistent left superior vena cava, Pericardial effusion, Ventricula... |
OMIM:618775 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:2143 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Burn-Mckeown Syndrome |
|
Hypomimic face, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615102 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Abnormal tendon morphology, Aort... |
ORPHA:391665 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Pate... |
OMIM:606003 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... |
OMIM:600001 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... |
ORPHA:402075 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... |
ORPHA:329224 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Abnormal heart morphology, Patent foramen ovale, Ventricular se... |
ORPHA:369891 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, L... |
OMIM:616564 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617751 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
| Heart Block, Congenital |
|
Myocardial calcification, Absent atrioventricular node, Cardiomyopathy, Myocardial fibrosis |
OMIM:234700 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Wrinkly Skin Syndrome |
|
Muscular ventricular septal defect, Hypoplasia of the musculature, Atrial septal dilatation, Scap... |
OMIM:278250 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1488 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2328 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Ventricular septal defect |
OMIM:219730 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal defect |
OMIM:613404 |
| Pelger-Huet Anomaly |
|
Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect |
OMIM:169400 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:612938 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Scapular winging, Patent d... |
OMIM:618870 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618950 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... |
OMIM:265380 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... |
OMIM:616652 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect |
OMIM:620511 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:7 |
| Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Truncus arteri... |
OMIM:609029 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... |
ORPHA:371428 |
| Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect |
OMIM:618027 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Coronary artery ath... |
ORPHA:435638 |
| Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Limb hypertonia, Camptodactyly of finger, Ventricular septal defect |
OMIM:616920 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c... |
OMIM:208085 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal... |
OMIM:612562 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... |
OMIM:617159 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:2209 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect |
OMIM:618021 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Ventricular septal defect, Atrial septal defect, Flexion contracture, Patent duc... |
OMIM:608149 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect |
ORPHA:1908 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... |
OMIM:600460 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect |
OMIM:614961 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular se... |
ORPHA:2008 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Atrial septal defect, Congenital diaphragmatic hernia, Ventricular s... |
OMIM:616777 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... |
ORPHA:3071 |
| Ritscher-Schinzel Syndrome 2 |
|
Pulmonary artery hypoplasia, Camptodactyly of finger, Ventricular septal defect, Atrial septal de... |
OMIM:300963 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... |
OMIM:618280 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect |
OMIM:619123 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flexion contracture, Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:2519 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Paten... |
OMIM:612582 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect |
ORPHA:369929 |
| Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventricula... |
ORPHA:1335 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
| Congenital Tracheomalacia |
|
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... |
ORPHA:95430 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:610733 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of ... |
OMIM:617602 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Rere-Related Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Ventricular septal defect |
ORPHA:494344 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Limb joint contracture, Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
| Ogden Syndrome |
|
Pulmonary artery stenosis, Torticollis, Ventricular septal defect |
ORPHA:276432 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... |
OMIM:192430 |
| Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... |
OMIM:605275 |
| Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... |
OMIM:115470 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Congenital muscular torticollis, Ventricular sep... |
ORPHA:457279 |
| Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atrial septal defect, Ventricu... |
OMIM:613001 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri... |
ORPHA:1780 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
| Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Ventricular septal defect, Neonatal death, Atrial septal defect, Patent ... |
OMIM:620024 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen ovale, Ventricular septal... |
ORPHA:26793 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Multiple joint contractures, Congenital diaphragmatic hernia, Ventricular ... |
ORPHA:96170 |
| Trisomy 13 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:3378 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, Atrial septal defect, Scapular winging, Ventricular septal defect |
OMIM:617061 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
| Carpenter Syndrome 1 |
|
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t... |
OMIM:201000 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... |
OMIM:264480 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... |
ORPHA:2255 |
| Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
| Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonary artery atresia, Arthrogryposi... |
OMIM:301056 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614576 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Camptodactyly of finger, Ventricular septal defect, Atrial septal ... |
OMIM:244300 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:609053 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, Flexion contracture, Atrial septal defect, Ventricular septal d... |
OMIM:309520 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:611812 |
| Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal heart morphology, Ventricular septal defect |
ORPHA:404440 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, Cardiomegaly, Coarctation of a... |
OMIM:614921 |
| Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... |
OMIM:614294 |
| Gm1 Gangliosidosis |
|
Cardiomyopathy, Camptodactyly of finger, Abnormal heart morphology, Cherry red spot of the macula... |
ORPHA:354 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Absence of the pulmonary valve, Ventricular septal defect, Dysplastic pulm... |
OMIM:601808 |
| Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
| Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Joint contracture of the 5th finger, Mitral v... |
OMIM:602782 |
| Trisomy 1Q |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular s... |
ORPHA:261344 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:620113 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosi... |
ORPHA:96167 |
| 19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect |
ORPHA:254346 |
| Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:270450 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... |
OMIM:620025 |
| Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Ventricular septal defect |
OMIM:617164 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Decreased muscle mass, Patent foramen ovale, Ventricular septal defect, Atr... |
OMIM:615582 |
| Mosaic Trisomy 16 |
|
Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ... |
ORPHA:1708 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu... |
OMIM:178110 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Patent f... |
OMIM:617506 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Coarctation of aorta, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614114 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Patent ... |
OMIM:130720 |
| Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ventric... |
OMIM:613309 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Patent ductus arteriosus after premature birth, Knee flexion contracture, Ventricular septal defect |
OMIM:620454 |
| Distal Deletion 19P |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect |
ORPHA:96129 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Chromosome 9P Deletion Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Ventric... |
OMIM:158170 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... |
ORPHA:2473 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Intestinal lymphangiectasia, Ventricular septal defect, Thyroid ly... |
OMIM:235510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi... |
OMIM:300998 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic pulmonary valve, Ventricular septal defect |
OMIM:619103 |
| Kleefstra Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Pulm... |
ORPHA:261494 |
| Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:153400 |
| Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:222448 |
| Distal Duplication 5Q |
|
Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Ventricular septal defect |
OMIM:614424 |
| X Small Rings |
|
Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect |
ORPHA:96201 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:52 |
| 19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small h... |
OMIM:610443 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Ventricular ... |
ORPHA:1692 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Ventricular se... |
OMIM:235255 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:612530 |
| Chops Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se... |
OMIM:616368 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular... |
ORPHA:99776 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Ventricul... |
ORPHA:141127 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
| De Barsy Syndrome |
|
Prominent veins on trunk, Decreased muscle mass, Ventricular septal defect, Persistent left super... |
ORPHA:2962 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aor... |
ORPHA:453499 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect |
ORPHA:251038 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale,... |
ORPHA:163956 |
| Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:268249 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... |
OMIM:618164 |
| Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:620654 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect |
ORPHA:261236 |
| Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen ... |
ORPHA:2745 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect |
OMIM:277600 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:79345 |
| Duane-Radial Ray Syndrome |
|
Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Small thenar eminence, Va... |
OMIM:607323 |
| C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
| Fanconi Anemia, Complementation Group N |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610832 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:100300 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... |
OMIM:610759 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:300712 |
| Coffin-Siris Syndrome 4 |
|
Pulmonary artery atresia, Mitral atresia, Ventricular septal defect, Atrial septal defect, Macrog... |
OMIM:614609 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Mitral valve prolapse, Ventricular septal defect, Limb hypertonia, Ascend... |
ORPHA:444072 |
| Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
| Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Atrial septal defect, Abnormal cardiac septum morphology, Ventricular septa... |
ORPHA:209905 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Patent foramen ovale, Ventricular septal defect, Camptodactyly, Pulmonary artery atresia, Hypopla... |
OMIM:616894 |
| Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:123700 |
| Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of Fallot, Ventricular... |
ORPHA:84064 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal hypertrophy, Ventricular septal defect |
OMIM:614947 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial s... |
ORPHA:261330 |
| Cerebellofaciodental Syndrome |
|
Mitral valve prolapse, Ventricular septal defect |
OMIM:616202 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Ventricular septal defect |
ORPHA:1655 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis |
OMIM:260400 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defect, Coarctation of ... |
OMIM:618454 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect |
OMIM:243150 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... |
OMIM:249420 |
| Mgat2-Cdg |
|
Abnormal heart morphology, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79329 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Elbow flexion contracture, Ventricular septal defect, Ascending aortic dis... |
OMIM:608328 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Macroglossia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:613457 |
| Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul... |
ORPHA:289 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... |
ORPHA:508498 |
| Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death |
OMIM:269860 |
| Kaufman Oculocerebrofacial Syndrome |
|
Coarctation of aorta, Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... |
OMIM:619268 |
| Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2461 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage... |
ORPHA:163979 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal def... |
ORPHA:2092 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventric... |
OMIM:280000 |
| Alg9-Cdg |
|
Hypoplasia of the musculature, Abnormal heart morphology, Abnormal renal artery morphology, Ventr... |
ORPHA:79328 |
| Down Syndrome |
|
Secundum atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular se... |
ORPHA:870 |
| Rabson-Mendenhall Syndrome |
|
Macroglossia, Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:769 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Flexion contracture, Ventricular septal defect |
OMIM:614653 |
| Ulnar-Mammary Syndrome |
|
Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal defect |
ORPHA:3138 |
| Codas Syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:600373 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Camptodactyly, Ventricular septal defect |
OMIM:272950 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect |
OMIM:301030 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:607721 |
| Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Ventricular septal defect, Patent ductus arteriosus, Neonatal... |
OMIM:146510 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:620558 |
| Goldberg-Shprintzen Syndrome |
|
Limb hypertonia, Ventricular septal defect |
OMIM:609460 |
| 3Mc Syndrome 1 |
|
Patent ductus arteriosus, Diastasis recti, Atrial septal defect, Ventricular septal defect |
OMIM:257920 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Macroglossia, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:96191 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... |
OMIM:619472 |
| Myhre Syndrome |
|
Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Coarctation of aor... |
OMIM:139210 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
| Chime Syndrome |
|
Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... |
ORPHA:3474 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricu... |
ORPHA:1507 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia, Interrupted inferior vena cava with azygous continuation, Ventri... |
OMIM:618846 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:619575 |
| Feingold Syndrome 1 |
|
Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,... |
OMIM:164280 |
| Alagille Syndrome 1 |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... |
OMIM:118450 |
| Coffin-Siris Syndrome |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:1465 |
| Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Varicose veins, Mitral valve prolapse, Ventricular septal defect |
OMIM:617107 |
| Robinow Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres... |
ORPHA:97360 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Camptodactyly, Fa... |
OMIM:300373 |
| Cornelia De Lange Syndrome 6 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Ventricular septal defect |
OMIM:620568 |
| Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect |
OMIM:227645 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
