Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Death in childhood, Atrial septal defect, Recurrent respiratory infect... |
OMIM:253300 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Hyp... |
ORPHA:1209 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Heterotaxy, Atrioventricular canal defe... |
OMIM:616749 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood, Pulmonary artery atresia |
OMIM:613759 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Neonatal d... |
OMIM:601612 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy |
OMIM:614876 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recu... |
OMIM:613807 |
Chromosome 15Q14 Deletion Syndrome |
|
Recurrent viral upper respiratory tract infections, Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:617044 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Left Isomerism, Double inlet right ventricle, Atrial septal defect... |
OMIM:619702 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:261243 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium |
OMIM:615524 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
OMIM:249270 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect |
OMIM:618496 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619189 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:613458 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Myopathy, Congenital, Nonprogressive |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Tetralogy o... |
ORPHA:3426 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Stillbirth, Atrial septal defect |
OMIM:263630 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:601450 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... |
ORPHA:401935 |
Shashi-Pena Syndrome |
|
Atrial septal defect |
OMIM:617190 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:616277 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
Noonan Syndrome 11 |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:618499 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Partial di... |
ORPHA:2847 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect |
OMIM:613355 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Pulmonic ... |
OMIM:619657 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... |
OMIM:615355 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... |
OMIM:612561 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... |
OMIM:610338 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect |
OMIM:178650 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:49827 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Recurrent upper respiratory tract infections, Ventricular septal defect, Pa... |
OMIM:619769 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:1913 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Isomerism, Transposition of the great arteries, Atrioventricular canal defect |
OMIM:314390 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormality of the pul... |
ORPHA:290 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Abnormal heart morphology |
ORPHA:352490 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Total anomalous pulmonary v... |
ORPHA:261183 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:207620 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly |
ORPHA:1296 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... |
OMIM:619149 |
Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis |
OMIM:248950 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:617021 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Partial atrioventricular canal defect, Primum atrial septal defect |
OMIM:619608 |
Grange Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:79094 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:613870 |
Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Transaldolase Deficiency |
|
Biventricular hypertrophy, Atrial septal defect |
ORPHA:101028 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:608406 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
Autosomal Dominant Coarctation Of Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart |
ORPHA:1455 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect |
OMIM:618142 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:614300 |
Prune Belly Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, A... |
ORPHA:2970 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormality of the pulmonary artery, Tetralogy of Fallot |
ORPHA:1166 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Patent foramen ovale |
OMIM:616867 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... |
ORPHA:7 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Ventricular septal defect, Congenital lobar ... |
OMIM:600987 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... |
ORPHA:500159 |
Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:329224 |
Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis |
ORPHA:3449 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:615502 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Pericardial effusion, Atrial septal defect |
OMIM:617300 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal lung lobation |
ORPHA:2516 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Atrial septal defect, Recurrent respirator... |
ORPHA:1842 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Encephalocele |
ORPHA:93274 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Recurrent respiratory infe... |
OMIM:618950 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... |
OMIM:609029 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect |
ORPHA:75389 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Bilater... |
OMIM:601186 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... |
OMIM:619343 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:300963 |
Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... |
OMIM:306955 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Pulmonary fibrosis, Secundum atrial septal defect |
OMIM:611926 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Atrial septal defect |
OMIM:601927 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia, Left ventricular hypertrophy, Left ventricular noncompaction, Neonatal deat... |
OMIM:619167 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect |
ORPHA:2655 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Cystic pattern on pulmonary HRCT, Elevated bronchoalveolar lavage fluid neu... |
OMIM:610978 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Death in childhood, Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
ORPHA:488618 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:618624 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Anencephaly, Ventricular septal defect, Meningocele, Encephalocele |
OMIM:611134 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:615102 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Death in infancy,... |
OMIM:208085 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Patent duc... |
ORPHA:1880 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Aminopterin/Methotrexate Embryofetopathy |
|
Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular s... |
ORPHA:1908 |
Alagille Syndrome 2 |
|
Pulmonic stenosis, Peripheral pulmonary artery stenosis, Atrial septal defect, Tetralogy of Fallot |
OMIM:610205 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormality ... |
ORPHA:90308 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect |
OMIM:600123 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Death in infancy |
OMIM:147800 |
Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Hypertrophic cardiomyopathy |
ORPHA:255241 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Situs inversus totali... |
OMIM:267010 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Mental Retardation, Buenos Aires Type |
|
Atrial septal defect |
OMIM:249630 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:241310 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Anomalous origin of left pulmonary artery from asce... |
ORPHA:99050 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Ve... |
ORPHA:284169 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:139466 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect |
OMIM:608571 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Abnormal pericardium morphology, Anencephaly, Tetralogy of Fallot, Ventricu... |
ORPHA:1335 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:613457 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormal lung lobation |
ORPHA:3378 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:615879 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Double outlet right ventricle, Atrial septal... |
ORPHA:99125 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Pulmonary hypoplasia, Secundum atrial septal defect |
OMIM:202650 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Schuurs-Hoeijmakers Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Patent ductus arteriosus, Patent foram... |
OMIM:615009 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial septal defect, Subaortic ventri... |
OMIM:612098 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Death in infancy |
OMIM:614576 |
Keutel Syndrome |
|
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Recurrent respiratory ... |
ORPHA:85202 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Encephalocele |
ORPHA:398156 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Pul... |
OMIM:608149 |
Aica-Ribosuria Due To Atic Deficiency |
|
Atrial septal defect |
OMIM:608688 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:618870 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrioventricular canal defect, Abdominal situs inve... |
OMIM:619123 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:603387 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:606003 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, P... |
OMIM:612582 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:126320 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Recurrent upper respiratory tract infections, Tetralogy o... |
ORPHA:95430 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Umbilical hernia, Large placenta, Abnormal heart morphology |
ORPHA:254534 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
Truncus Arteriosus |
|
Pulmonary edema, Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralog... |
ORPHA:3384 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Pulmonary hypoplasia, Pneumothorax, Abnormal pulmona... |
ORPHA:2257 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Spinal dysr... |
OMIM:617660 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembranou... |
ORPHA:363444 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Ventricular septal defect, Atrial septal defect, Recurrent respirato... |
OMIM:616777 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Patent ductus arteriosus, Death in infancy |
ORPHA:452 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart |
OMIM:619721 |
Roifman Syndrome |
|
Ventricular septal defect, Noncompaction cardiomyopathy, Recurrent pneumonia |
OMIM:616651 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricul... |
OMIM:616564 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Death in childhood, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hypert... |
OMIM:612938 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Ventricular septal defect, Spinal dysraphism, Transposition of the great art... |
ORPHA:1926 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:609053 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Atrial septal defect |
OMIM:301039 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:270450 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Umbilical hernia, Heterotaxy |
OMIM:618846 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Cat Eye Syndrome |
|
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of ... |
OMIM:115470 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral valve prolapse, Patent foramen ovale |
OMIM:615539 |
Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... |
ORPHA:96170 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale |
OMIM:618821 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
ORPHA:2519 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Atrial septal defect, Death in infancy, Recurrent respiratory infections |
ORPHA:1790 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect |
OMIM:619909 |
Noonan Syndrome 5 |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:611553 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Atrial septal defect |
OMIM:617452 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... |
OMIM:265380 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Tetralogy of Fallot, T... |
ORPHA:980 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Atrial septal defect, Neonatal death, Situs inversus totalis, Pulmonary hy... |
OMIM:208540 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy |
OMIM:607598 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Dilated cardiomyopathy, Patent foramen ovale, Pn... |
ORPHA:26793 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... |
OMIM:601808 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Umbilical hernia, Abnormal heart morphology |
ORPHA:369891 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale |
OMIM:618027 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal heart morphology |
ORPHA:485405 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atr... |
OMIM:613001 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Pa... |
ORPHA:363705 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Patent foramen ova... |
OMIM:616866 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Dysplastic pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus... |
OMIM:612863 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pneumothorax, Ventricular septal defect, Atrial septal defect |
OMIM:617602 |
Brain-Lung-Thyroid Syndrome |
|
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal pulmonary interstitial morphol... |
ORPHA:209905 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Death in i... |
ORPHA:2008 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:614857 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect |
ORPHA:435638 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abn... |
ORPHA:457279 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:2143 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent bronchopulmonary infections, Atrial septal defect, Death in childhood, Patent ductus ar... |
OMIM:617303 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect |
ORPHA:896 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:505237 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Recurrent respiratory infections |
OMIM:619383 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Dextrocardia, Overriding aorta, Umbilical hernia |
OMIM:616145 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... |
OMIM:616028 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:610733 |
Carpenter Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Spina bifida occulta, Ventricular s... |
OMIM:201000 |
Ellis Van Creveld Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Situs inversus totalis, Ventricular septal d... |
ORPHA:289 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:617061 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... |
OMIM:618280 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect |
OMIM:145420 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:220500 |
Noonan Syndrome 7 |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:613706 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Abnormal lung lobati... |
ORPHA:99776 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
ORPHA:457193 |
Buratti-Harel Syndrome |
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Atrial septal defect, Recurrent pneumonia |
OMIM:619314 |
Chromosome 17Q12 Duplication Syndrome |
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Atrial septal defect |
OMIM:614526 |
Pseudotrisomy 13 Syndrome |
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Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... |
OMIM:264480 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Ventricular septal defect, Death in infancy, Right ventricular hypertrophy |
OMIM:613404 |
Craniofacial Dyssynostosis With Short Stature |
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Ventricular septal defect, Patent ductus arteriosus |
OMIM:218350 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Atrial septal defect, Neonatal death, Ventricular septal defect, Patent ductus arteriosus, Corona... |
OMIM:620024 |
Sifrim-Hitz-Weiss Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot |
OMIM:617159 |
Orotic Aciduria |
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Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopathy, C... |
OMIM:616897 |
Noonan Syndrome 9 |
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Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
Inverted Duplicated Chromosome 15 Syndrome |
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Ventricular septal defect, Tetralogy of Fallot |
ORPHA:3306 |
Alazami Syndrome |
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Atrial septal defect |
ORPHA:319671 |
Thanatophoric Dysplasia Type 1 |
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Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Atrial septal defect |
ORPHA:1860 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:371428 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Cardiac Valvular Dysplasia 1 |
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Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Mitral valve prolapse, Patent foram... |
OMIM:212093 |
Contractural Arachnodactyly, Congenital |
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Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitral valve prolapse, Pa... |
OMIM:121050 |
Brachydactyly, Type B1 |
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Ventricular septal defect |
OMIM:113000 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
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Atrial septal defect, Secundum atrial septal defect |
OMIM:618109 |
Noonan Syndrome 2 |
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Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricu... |
OMIM:605275 |
Weiss-Kruszka Syndrome |
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Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Stevenson-Carey Syndrome |
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Atrial septal defect |
OMIM:611961 |
Lethal Congenital Contracture Syndrome 10 |
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Ventricular septal defect, Overriding aorta, Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
Laubry-Pezzi Syndrome |
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Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Patent ductus art... |
ORPHA:99094 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
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Atrial septal defect |
OMIM:619115 |
Congenital Disorder Of Glycosylation, Type Ig |
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Respiratory tract infection, Patent ductus arteriosus, Patent foramen ovale, Recurrent respirator... |
OMIM:607143 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Ventricular septal defect, Atrial septal defect, Spina bifida occulta |
OMIM:617360 |
19P13.12 Microdeletion Syndrome |
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Ventricular septal defect, Atrial septal defect |
ORPHA:254346 |
Al Kaissi Syndrome |
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Atrial septal defect |
OMIM:617694 |
Alagille Syndrome |
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Ventricular septal defect, Peripheral pulmonary artery stenosis, Atrial septal defect, Spina bifi... |
ORPHA:52 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Pulmonic stenosis, Ventricular septal defect, Recurrent respiratory infections |
OMIM:615508 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect |
OMIM:614886 |
Mosaic Trisomy 16 |
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Atrial septal defect, Large placenta, Ventricular septal defect, Pulmonary hypoplasia, Patent duc... |
ORPHA:1708 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Pericardial effusion, Peri... |
OMIM:235510 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:244300 |
Ferguson-Bonni Neurodevelopmental Syndrome |
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Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hypoplastic ... |
ORPHA:1727 |
Stankiewicz-Isidor Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
Chromosome 9P Deletion Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Perimembranous ventric... |
OMIM:158170 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Atrial septal defect |
ORPHA:79113 |
Fanconi Anemia, Complementation Group B |
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Ventricular septal defect, Patent ductus arteriosus, Death in infancy, Abnormal lung lobation |
OMIM:300514 |
Cooper-Jabs Syndrome |
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Ventricular septal defect, Umbilical hernia |
ORPHA:1488 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
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Ventricular septal defect |
OMIM:617635 |
Braddock-Carey Syndrome 1 |
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Ventricular septal defect, Aortic valve prolapse |
OMIM:619980 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Abnormal mitral valve morphology, Atrial septal defect, Umbilical hernia |
ORPHA:1292 |
Pelger-Huet Anomaly |
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Ventricular septal defect, Umbilical hernia |
OMIM:169400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Mitral valve prolapse, Atrial septal defect |
OMIM:300986 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Abnormal lung lobation |
OMIM:614114 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Recombinant 8 Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, P... |
ORPHA:96167 |
Noonan Syndrome 3 |
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Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... |
OMIM:609942 |
Diamond-Blackfan Anemia 5 |
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Ventricular septal defect |
OMIM:612528 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Ventricular septal defect, Recurrent upper respiratory tract infections |
ORPHA:3078 |
Noonan Syndrome 13 |
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Mitral valve prolapse, Atrial septal defect |
OMIM:619087 |
Meier-Gorlin Syndrome 7 |
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Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary hypoplasia, Atrial s... |
OMIM:617063 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Pulmonic stenosis, Patent foramen ovale, Umbilical hernia |
OMIM:618914 |
King-Denborough Syndrome |
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Ventricular septal defect |
OMIM:619542 |
Proximal 16P11.2 Microdeletion Syndrome |
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Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology |
ORPHA:261197 |
Atrioventricular Septal Defect 3 |
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Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... |
ORPHA:2255 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Ventricular septal defect, Atrial septal defect |
OMIM:610536 |
Sotos Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Muscular ventricular s... |
OMIM:117550 |
Nephrotic Syndrome, Type 11 |
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Ventricular septal defect, Dilated cardiomyopathy |
OMIM:616730 |
Beaulieu-Boycott-Innes Syndrome |
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Ventricular septal defect, Patent ductus arteriosus |
OMIM:613680 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Death in childhood, Ventricular septal defect, Death in infancy, Recurrent respiratory infections... |
OMIM:243150 |
Down Syndrome |
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Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... |
OMIM:190685 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
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Ventricular hypertrophy, Patent foramen ovale, Death in infancy |
OMIM:602613 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
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Bicuspid aortic valve, Atrial septal defect |
OMIM:619720 |
Spondylo-Ocular Syndrome |
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Ventricular septal defect |
ORPHA:85194 |
Tatton-Brown-Rahman Syndrome |
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Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
ORPHA:404443 |
Pseudo-Torch Syndrome 2 |
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Patent ductus arteriosus, Secundum atrial septal defect, Pleural effusion |
OMIM:617397 |
Phaver Syndrome |
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Ventricular septal defect, Myelomeningocele, Pulmonary artery atresia |
ORPHA:2876 |
Distal Tetrasomy 15Q |
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Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia, Abnormal heart morphology |
ORPHA:314588 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Diamond-Blackfan Anemia 7 |
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Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect, Tetralogy of ... |
OMIM:612562 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
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Secundum atrial septal defect |
OMIM:618665 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Aortic valve stenosis, Atrial septal defect |
ORPHA:459061 |
Spondyloocular Syndrome |
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Mitral valve prolapse, Atrial septal defect |
OMIM:605822 |
Distal Xq28 Microduplication Syndrome |
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Recurrent upper respiratory tract infections, Patent ductus arteriosus, Patent foramen ovale |
ORPHA:293939 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Ventricular septal defect |
OMIM:615630 |
Bdv Syndrome |
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Atrial septal defect |
OMIM:619326 |
Char Syndrome |
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Ventricular septal defect, Patent ductus arteriosus |
ORPHA:46627 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
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Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect |
OMIM:300998 |
Intellectual Disability-Strabismus Syndrome |
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Patent ductus arteriosus, Atrial septal defect |
ORPHA:363528 |
Brachytelephalangic Chondrodysplasia Punctata |
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Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery steno... |
ORPHA:79345 |
Methimazole Embryofetopathy |
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Ventricular septal defect |
ORPHA:1923 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... |
ORPHA:453499 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Ventricular septal defect, Umbilical hernia |
ORPHA:1770 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Ventricular septal defect, Atrial septal defect |
OMIM:309520 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
ORPHA:2328 |
Johnson Neuroectodermal Syndrome |
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Ventricular septal defect, Patent ductus arteriosus |
OMIM:147770 |
Rere-Related Neurodevelopmental Syndrome |
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Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplasia |
OMIM:611812 |
Chromosome 10Q26 Deletion Syndrome |
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Patent ductus arteriosus, Atrial septal defect |
OMIM:609625 |
Fetal Alcohol Syndrome |
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Atrial septal defect |
ORPHA:1915 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Atrial septal defect, Patent foramen ovale |
OMIM:619184 |
Adams-Oliver Syndrome 1 |
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Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypoplastic left heart, Encep... |
OMIM:100300 |
Warsaw Breakage Syndrome |
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Ventricular septal defect, Tetralogy of Fallot |
OMIM:613398 |
Codas Syndrome |
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Ventricular septal defect |
ORPHA:1458 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
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Peripheral pulmonary artery stenosis, Atrial septal defect |
OMIM:614749 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
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Secundum atrial septal defect, Recurrent respiratory infections, Umbilical hernia |
OMIM:619758 |
Short Stature-Micrognathia Syndrome |
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Ventricular septal defect |
OMIM:617164 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ventricular septal defect, Recurrent aspiration pneumonia |
ORPHA:79243 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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Peripheral pulmonary artery stenosis, Atrial septal defect |
ORPHA:436003 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Death in childhood, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Abs... |
OMIM:600460 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
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Patent ductus arteriosus, Atrial septal defect |
ORPHA:397709 |
19P13.3 Microduplication Syndrome |
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Ventricular septal defect |
ORPHA:447980 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
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Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventricular hy... |
ORPHA:230851 |
20Q13.33 Microdeletion Syndrome |
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Abnormal cardiac ventricle morphology, Atrial septal defect |
ORPHA:261311 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... |
OMIM:253800 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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Ventricular septal defect, Recurrent aspiration pneumonia, Patent ductus arteriosus, Recurrent pn... |
OMIM:300472 |
Cardioacrofacial Dysplasia 2 |
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Common atrium, Atrioventricular canal defect |
OMIM:619143 |
Gm1 Gangliosidosis |
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Aspiration pneumonia, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Recurr... |
ORPHA:354 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Pseudo-Torch Syndrome 1 |
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Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia |
OMIM:251290 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261236 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... |
OMIM:610759 |
Myopathy With Extrapyramidal Signs |
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Ventricular septal defect |
OMIM:615673 |
Ogden Syndrome |
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Ventricular septal defect, Pulmonary artery stenosis |
ORPHA:276432 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Dilated cardiomyopathy |
OMIM:618348 |
Distal Monosomy 10Q |
|
Patent ductus arteriosus, Atrial septal defect, Spina bifida occulta |
ORPHA:96148 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:261279 |
White-Sutton Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:616364 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:153400 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Recurrent respiratory infections |
ORPHA:217346 |
Mckusick-Kaufman Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pat... |
ORPHA:2473 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3071 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, Pulmonary artery atr... |
OMIM:301056 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve atresia, Left ventricular hype... |
ORPHA:2299 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Recurrent pneumonia |
OMIM:619179 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Pulmonary artery dilatation, Atrial septal defect |
OMIM:613834 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:605039 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Concentric hypertrophic cardiomyopathy, Death in childhood, Dilated cardiomyopathy, Patent ductus... |
OMIM:610505 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect |
ORPHA:2728 |
Chops Syndrome |
|
Anomalous pulmonary venous return, Aspiration pneumonia, Ventricular septal defect, Patent ductus... |
OMIM:616368 |
Proximal Spinal Muscular Atrophy |
|
Recurrent aspiration pneumonia, Atrial septal defect, Recurrent infections due to aspiration |
ORPHA:70 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:602482 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular septal defect, Ventricular hypertrophy |
ORPHA:369929 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect, Hypoplastic l... |
OMIM:142900 |
Mogs-Cdg |
|
Left ventricular hypertrophy, Pulmonary edema, Cardiomegaly, Atrial septal defect |
ORPHA:79330 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Death in infancy |
OMIM:609069 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Pulmonary lymphangiectasia, Death in infancy |
OMIM:235255 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Atrial septal defect, Recurrent respiratory infections |
ORPHA:2637 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... |
OMIM:610443 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Pericardial effusion |
OMIM:618775 |
Distal Monosomy 19P13.3 |
|
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia, Umbilical hernia |
ORPHA:96129 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Branchial fistula, Ventricular septal defect, Recurrent respiratory infecti... |
ORPHA:261330 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect |
OMIM:618223 |
Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Atrial septal defect, Pneumonia |
OMIM:603467 |
Fg Syndrome Type 1 |
|
Mitral valve prolapse, Atrial septal defect, Umbilical hernia |
ORPHA:93932 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:619648 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Pulmonary hypoplasia, Atrial septal defect |
OMIM:616546 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia, Atrial septal defect |
ORPHA:85201 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Patent ductus ar... |
ORPHA:2745 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia |
OMIM:618454 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:612530 |
Syndromic Diarrhea |
|