Ventricular Septal Defect 1 |
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Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Spinal Muscular Atrophy, Type I |
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Recurrent respiratory infections, Atrial septal defect, Death in childhood, Ventricular septal de... |
OMIM:253300 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
Heart Defects-Limb Shortening Syndrome |
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Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... |
ORPHA:1354 |
Cayler Cardiofacial Syndrome |
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Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Pulmonary Atresia With Ventricular Septal Defect |
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Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Ventricular Septal Defect 3 |
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Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Tricuspid Atresia |
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Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... |
ORPHA:1209 |
Laterality Defects, Autosomal Dominant |
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Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Distal 7Q11.23 Microdeletion Syndrome |
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Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Megabladder, Congenital |
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Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
Ciliary Dyskinesia, Primary, 44 |
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Heterotaxy, Bronchiectasis, Recurrent sinusitis |
OMIM:618781 |
Congenital Heart Defects, Multiple Types, 5 |
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Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Atrial Septal Defect 2 |
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Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
8p23.1 deletion syndrome |
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Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Adams-Oliver Syndrome 4 |
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Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
Cardiomyopathy, Dilated, 2H |
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Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death |
OMIM:620203 |
Heterotaxy, Visceral, 7, Autosomal |
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Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Mitral atres... |
OMIM:616749 |
Fallot Complex With Severe Mental And Growth Retardation |
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Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Diamond-Blackfan Anemia 16 |
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Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
Congenital Heart Defects, Multiple Types, 4 |
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Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Atrial Septal Defect 4 |
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Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
White Forelock With Malformations |
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Atrial septal defect |
OMIM:277740 |
Eng-Strom Syndrome |
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Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Ciliary Dyskinesia, Primary, 52 |
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Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
Partial Atrioventricular Septal Defect |
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Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
Sonoda Syndrome |
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Ventricular septal defect |
OMIM:270460 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
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Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Cranioacrofacial Syndrome |
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Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Right Atrial Isomerism |
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Common atrium, Total anomalous pulmonary venous return, Abnormal lung lobation, Tetralogy of Fall... |
OMIM:208530 |
Heterotaxy, Visceral, 6, Autosomal |
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Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal d... |
OMIM:601612 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
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Pulmonary artery atresia, Death in childhood, Ventricular septal defect |
OMIM:613759 |
Atrioventricular Septal Defect 5 |
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Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Microphthalmia, Syndromic 12 |
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Hypoplastic left atrium, Neonatal death, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Death in infancy, Ventricular septal defect |
OMIM:614876 |
Atrial Septal Defect 8 |
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Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Fetal Minoxidil Syndrome |
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Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Ciliary Dyskinesia, Primary, 14 |
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Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurrent respirator... |
OMIM:613807 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
Indomethacin Embryofetopathy |
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Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
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Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Ciliary Dyskinesia, Primary, 40 |
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Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
Cardiomyopathy, Dilated, 2D |
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Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
Chromosome 15Q14 Deletion Syndrome |
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Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Pulmonary Hypoplasia, Primary |
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Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Catel-Manzke Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Patent ductus arteriosus, Pulmonary sequestration, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Heterotaxy, Visceral, 8, Autosomal |
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Hypoplastic left heart, Unbalanced atrioventricular canal defect, Abdominal situs inversus, Atria... |
OMIM:617205 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
Fadd-Related Immunodeficiency |
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Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Ciliary Dyskinesia, Primary, 30 |
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Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... |
OMIM:616037 |
Feingold Syndrome Type 2 |
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Ventricular septal defect |
ORPHA:391646 |
Congenital Heart Defects, Multiple Types, 6 |
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Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... |
OMIM:613854 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:614262 |
Heterotaxy, Visceral, 12, Autosomal |
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Hypoplastic left heart, Common atrium, Double inlet right ventricle, Dextrotransposition of the g... |
OMIM:619702 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
16P13.11 Microduplication Syndrome |
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Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:261243 |
Xk Aprosencephaly Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Cardiac Septal Defects With Coarctation Of The Aorta |
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Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
Atrial Septal Defect 6 |
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Atrial septal defect |
OMIM:613087 |
Li-Campeau Syndrome |
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Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
Congenital Myopathy 11 |
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Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
Bardet-Biedl Syndrome 19 |
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Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... |
OMIM:615996 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Situs inversus totalis, Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
OMIM:249270 |
Nemaline Myopathy 9 |
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Ventricular septal defect |
OMIM:615731 |
Feingold Syndrome 2 |
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Ventricular septal defect |
OMIM:614326 |
Atrial Septal Defect 1 |
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Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
Hadziselimovic Syndrome |
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Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... |
OMIM:612946 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Death in... |
ORPHA:1120 |
Congenital Heart Defects, Multiple Types, 3 |
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Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect |
OMIM:614954 |
Congenital Heart Defects, Multiple Types, 2 |
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Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
Double Outlet Right Ventricle |
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Hypoplastic left heart, Tetralogy of Fallot, Heterotaxy, Ventricular septal defect, Truncus arter... |
ORPHA:3426 |
Bardet-Biedl Syndrome 2 |
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Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Primary Non-Essential Cutis Verticis Gyrata |
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Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Developmental And Epileptic Encephalopathy 102 |
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Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Left Ventricular Noncompaction 1 |
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Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
46,Xx Sex Reversal 5 |
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Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
Meacham Syndrome |
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Hypoplastic left heart, Tetralogy of Fallot, Congenital alveolar dysplasia, Scimitar anomaly, Dea... |
OMIM:608978 |
Polysyndactyly With Cardiac Malformation |
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Stillbirth, Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Microcephaly-Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Coenzyme Q10 Deficiency, Primary, 7 |
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Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... |
OMIM:616276 |
Aortic Valve Disease 3 |
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Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:401935 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Atrial septal defect |
ORPHA:52056 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
Mmep Syndrome |
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Ventricular septal defect |
ORPHA:3434 |
Ciliary Dyskinesia, Primary, 53 |
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Recurrent pneumonia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Card... |
OMIM:620642 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Cardiomyopathy, Dilated, 2J |
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Dilated cardiomyopathy, Secundum atrial septal defect |
OMIM:620635 |
Heterotaxy, Visceral, 4, Autosomal |
|
Common atrium, Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotran... |
OMIM:613751 |
Scimitar Syndrome |
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Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... |
ORPHA:185 |
Neurooculocardiogenitourinary Syndrome |
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Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... |
OMIM:618652 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Atrioventricular canal defect, Neonatal death, Transposition of the great arteries, Dextrocardia,... |
OMIM:314390 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect |
OMIM:616277 |
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... |
ORPHA:2847 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Patent ductus arte... |
ORPHA:2248 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect |
ORPHA:2476 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Situs... |
ORPHA:3097 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Umbilical hernia, Ventricular ... |
OMIM:619769 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... |
OMIM:612561 |
Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... |
ORPHA:3282 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Anomalous origin of ri... |
OMIM:610338 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Left ventricular hypert... |
OMIM:615355 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Atrial septal defect |
OMIM:620247 |
Atelis Syndrome 1 |
|
Atrial septal defect, Bronchiectasis, Ventricular septal defect |
OMIM:620184 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... |
OMIM:179613 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Hydranencephaly, Ventricular septal defect |
OMIM:601355 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
Timothy Syndrome |
|
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... |
OMIM:601005 |
Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... |
OMIM:619149 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrioventricular canal defect,... |
OMIM:270100 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Atrial septal defect, Umbilical hernia |
ORPHA:352490 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect |
OMIM:231060 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Agenesis of pulmonary vessels, Tetralogy of Fallot, Alveolar capillary d... |
OMIM:601186 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect |
OMIM:300887 |
Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... |
OMIM:212093 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defec... |
OMIM:600987 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... |
OMIM:610978 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:613870 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect |
ORPHA:1166 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... |
OMIM:614868 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:1455 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect |
OMIM:618142 |
Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... |
OMIM:615067 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Transaldolase Deficiency |
|
Biventricular hypertrophy, Atrial septal defect |
ORPHA:101028 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Prune Belly Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrial septal de... |
ORPHA:2970 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricul... |
ORPHA:500159 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular canal defect, Ventricular septal defect, Atrial septal d... |
ORPHA:392 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Pulmonary fibrosis, Secundum atrial septal defect |
OMIM:611926 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Chromosome 5Q12 Deletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:615668 |
Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:7 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial ... |
ORPHA:329224 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent sinusitis, Atrial septal defect, Recurrent respiratory infections,... |
OMIM:618282 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Atrial septal defect, Patent foramen ovale, Ventricular septal ... |
OMIM:618950 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Abnormal lung lobation |
ORPHA:2516 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Patent foramen oval... |
OMIM:619167 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:615502 |
Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Death in childhood, Ventricular septal def... |
OMIM:620609 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:601927 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus |
ORPHA:93274 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Umbilical hernia |
OMIM:618205 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Ventricular septal defect |
OMIM:620210 |
Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect, Patent ductu... |
ORPHA:1842 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... |
ORPHA:1908 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Congenital Heart Block |
|
Endocardial fibroelastosis, Pleural effusion, Patent foramen ovale, Pericardial effusion, Patent ... |
ORPHA:60041 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal defect, Death i... |
OMIM:620070 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Atrial septal defect, Meningocele, Anencephaly |
OMIM:611134 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis |
ORPHA:896 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
Alagille Syndrome 2 |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis |
OMIM:610205 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect |
OMIM:147800 |
White Forelock With Malformations |
|
Spina bifida occulta, Atrial septal defect |
ORPHA:2475 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia |
OMIM:202650 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Death in infancy, Truncus arteriosus, Ventricular septal defect, Atrial sept... |
OMIM:617478 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia |
ORPHA:2655 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618494 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis, Ventricular sep... |
ORPHA:85202 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Death in childhood, Patent foramen ovale |
OMIM:614582 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Tyshchenko Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615102 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... |
ORPHA:1880 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormality ... |
ORPHA:90308 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
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 |
Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:618354 |
Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... |
ORPHA:2257 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Anomalous origin of right pulmonary artery from ascending aorta, Tetralog... |
ORPHA:99050 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Dilated cardiomyopathy, Atrial septal defect |
OMIM:610198 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Pulmonary hypoplasia |
ORPHA:139466 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Recurrent pneumonia, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Patent d... |
OMIM:617751 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:241310 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal heart morphology, Atrial septal defect, Umbilical hernia |
OMIM:175700 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Right ve... |
OMIM:208085 |
Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Ri... |
OMIM:267010 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, A... |
ORPHA:1335 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... |
OMIM:615009 |
Emanuel Syndrome |
|
Aortic valve stenosis, Recurrent sinusitis, Ventricular septal defect, Truncus arteriosus, Atrial... |
OMIM:609029 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618870 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale |
ORPHA:88630 |
Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Trisomy 13 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal lung lobation |
ORPHA:3378 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Zechi-Ceide Syndrome |
|
Abnormal heart morphology, Atrial septal defect |
ORPHA:217017 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Atrial se... |
OMIM:612582 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Overriding aorta, Double outlet right ventricle, Atrial septal defect, Paten... |
ORPHA:3304 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Umbilical hernia, Large placenta, Ventricular septal defect |
ORPHA:254534 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... |
OMIM:619123 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Pul... |
OMIM:608149 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Lymphatic Malformation 7 |
|
Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Pericardial effusion |
OMIM:617300 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... |
OMIM:612098 |
Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall... |
ORPHA:3384 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Atrial septal defect, Death in infancy, Ventricular septal defect |
OMIM:614576 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Death in infancy, Ventricular septal defect |
ORPHA:452 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:606003 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Atrial septal defect, Recurrent respiratory infections, Ventricular ... |
OMIM:616777 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Patent ductus arteriosus, Pu... |
OMIM:616866 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect |
OMIM:614815 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect |
OMIM:619721 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale |
OMIM:618821 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in childhood, Death in infancy, Ventricular septal defect |
OMIM:616901 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect |
OMIM:616651 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal d... |
ORPHA:1926 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Ventricular septal defect |
ORPHA:2345 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormal heart morphology, Umbilical hernia, Patent foramen ovale, Ventricular septal defect |
ORPHA:369891 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... |
ORPHA:980 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Recurrent respiratory infections, Atrial septal defect, Patent ductus arteriosus |
ORPHA:1790 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Atrial septal ... |
OMIM:617660 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:603387 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... |
ORPHA:363444 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve prolapse, Ventricula... |
OMIM:616564 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... |
OMIM:115470 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Death in childhood, Ventricular septal defect, Pat... |
OMIM:612938 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical hernia, Tetralogy of Fal... |
OMIM:600001 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect |
ORPHA:485405 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal... |
ORPHA:26793 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
Emanuel Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Recur... |
ORPHA:96170 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Ventricular septal defect |
OMIM:601357 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:609053 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Heterotaxy, Ventricular septal defect |
OMIM:618846 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:2143 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... |
OMIM:265380 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:611553 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Absence of the pulmonary valve, Umbilical hernia, Ventricular septal defec... |
OMIM:601808 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect |
OMIM:619383 |
Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Patent foramen ovale, Right atrial enlargement, Right ventricular hypertrophy, ... |
OMIM:616028 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Situs inversus totalis, Neonatal death, Atrial septal defect, Patent ductu... |
OMIM:208540 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atrial septal defect, Ventricu... |
OMIM:613001 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Abnor... |
ORPHA:209905 |
Ritscher-Schinzel Syndrome 2 |
|
Pulmonary artery hypoplasia, Atrial septal defect, Patent ductus arteriosus, Ventricular septal d... |
OMIM:300963 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:2519 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:614857 |
Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Mitral stenosis, Death in infancy, Truncus arteriosus, Ventricular septal de... |
ORPHA:2008 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Pulmonary... |
OMIM:616897 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:617061 |
Double Outlet Left Ventricle |
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Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul... |
ORPHA:3427 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Ventricular septal defect |
ORPHA:2256 |
Craniofaciofrontodigital Syndrome |
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Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:620327 |
Mucopolysaccharidosis-Plus Syndrome |
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Recurrent pneumonia, Hypertrophic cardiomyopathy, Death in childhood, Atrial septal defect, Recur... |
OMIM:617303 |
Carpenter Syndrome 1 |
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Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arte... |
OMIM:201000 |
3P25.3 Microdeletion Syndrome |
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Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
ORPHA:435638 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:457279 |
Ebstein Anomaly |
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Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
Neurodevelopmental Disorder With Language Delay And Seizures |
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Ventricular septal defect |
OMIM:619908 |
Tetraamelia Syndrome 2 |
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Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Insulin-Like Growth Factor I, Resistance To |
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Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:270450 |
Ellis Van Creveld Syndrome |
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Emphysema, Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis... |
ORPHA:289 |
Noonan Syndrome 4 |
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Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:610733 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... |
OMIM:615474 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmo... |
OMIM:612863 |
Congenital Disorder Of Glycosylation, Type Il |
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Pericardial effusion, Atrial septal defect |
OMIM:608776 |
Contractural Arachnodactyly, Congenital |
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Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa... |
OMIM:121050 |
Noonan Syndrome 7 |
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Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:613706 |
Orotic Aciduria |
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Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Ventricular septal defect |
OMIM:618504 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Congenital pulmonary airway malformation, Bilateral lung agenesis, Ventricular septal defect, Pul... |
OMIM:611812 |
Buratti-Harel Syndrome |
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Recurrent pneumonia, Atrial septal defect |
OMIM:619314 |
Tetrasomy 15Q26 |
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Patent ductus arteriosus, Atrial septal defect |
OMIM:614846 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Double outlet right vent... |
ORPHA:371428 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
Noonan Syndrome 9 |
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Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
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Atrial septal defect |
OMIM:619115 |
Craniofacial Dyssynostosis With Short Stature |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Mosaic Trisomy 9 |
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Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular ... |
ORPHA:99776 |
Pontocerebellar Hypoplasia, Type 8 |
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Patent foramen ovale, Ventricular septal defect |
OMIM:614961 |
Thanatophoric Dysplasia Type 1 |
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Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus |
ORPHA:1860 |
Alazami Syndrome |
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Atrial septal defect |
ORPHA:319671 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
Mosaic Trisomy 16 |
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Abnormal heart morphology, Large placenta, Ventricular septal defect, Atrial septal defect, Abnor... |
ORPHA:1708 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Right ventricular hypertrophy, Death in infancy, Ventricular septal defect |
OMIM:613404 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... |
OMIM:620024 |
Chromosome 17Q12 Duplication Syndrome |
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Atrial septal defect |
OMIM:614526 |
Verheij Syndrome |
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Truncus arteriosus, Branchial cyst, Ventricular septal defect |
OMIM:615583 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Umbilical hernia, Pleural effusion, Ventricular septal defect, Atrial septal defect, Pulmonary ly... |
OMIM:235510 |
22Q11.2 Duplication Syndrome |
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Hypoplastic left heart, Tetralogy of Fallot, Transposition of the great arteries, Ventricular sep... |
ORPHA:1727 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
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Recurrent lower respiratory tract infections, Secundum atrial septal defect |
OMIM:620194 |
Sifrim-Hitz-Weiss Syndrome |
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Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:617159 |
Weiss-Kruszka Syndrome |
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Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Recurrent pneumonia, Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
Pseudotrisomy 13 Syndrome |
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Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... |
OMIM:264480 |
19P13.12 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:254346 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Stevenson-Carey Syndrome |
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Atrial septal defect |
OMIM:611961 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect |
OMIM:614886 |
Fanconi Anemia, Complementation Group B |
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Ventricular septal defect, Patent ductus arteriosus, Death in infancy, Abnormal lung lobation |
OMIM:300514 |
Pelger-Huet Anomaly |
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Umbilical hernia, Ventricular septal defect |
OMIM:169400 |
Alagille Syndrome |
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Spina bifida occulta, Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular sep... |
ORPHA:52 |
Brachydactyly, Type B1 |
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Ventricular septal defect |
OMIM:113000 |
Phaver Syndrome |
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Myelomeningocele, Pulmonary artery atresia, Ventricular septal defect |
ORPHA:2876 |
Laubry-Pezzi Syndrome |
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Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le... |
ORPHA:99094 |
Tatton-Brown-Rahman Syndrome |
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Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
ORPHA:404443 |
Cooper-Jabs Syndrome |
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Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
Lymphatic Malformation 13 |
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Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Neonatal death |
OMIM:620244 |
Stankiewicz-Isidor Syndrome |
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Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617516 |
Braddock-Carey Syndrome 1 |
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Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Pseudo-Torch Syndrome 2 |
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Secundum atrial septal defect, Pleural effusion, Patent ductus arteriosus |
OMIM:617397 |
Chromosome 9P Deletion Syndrome |
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Patent ductus arteriosus, Atrial septal defect, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Recurrent upper respiratory tract infections, Ventricular septal defect |
ORPHA:3078 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Subvalvular aortic stenosis, Ventricular septal defect, Atrial septal defect, Abnormal lung lobation |
OMIM:614114 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Atrial septal defect |
ORPHA:79113 |
Proximal 16P11.2 Microdeletion Syndrome |
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Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia |
ORPHA:261197 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Tetralogy of... |
ORPHA:2255 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Congenital pulmonary airway malformation, Death in childhood, Death in infancy, Ventricular septa... |
OMIM:243150 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Spina bifida occulta, Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
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Ventricular septal defect |
OMIM:617635 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
Aortic Valve Disease 2 |
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Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis, Patent foramen ovale |
OMIM:614823 |
Ferguson-Bonni Neurodevelopmental Syndrome |
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Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
Recombinant 8 Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, ... |
ORPHA:96167 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Atrial septal defect, Repeated pneumothoraces, Ventricular septal defect |
OMIM:617602 |
Distal Triplication 15Q |
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Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia |
ORPHA:314588 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
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Bicuspid aortic valve, Atrial septal defect |
OMIM:619720 |
Noonan Syndrome 3 |
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Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Pulmonic stenosis, Patent foramen ovale, Umbilical hernia |
OMIM:618914 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Diamond-Blackfan Anemia 5 |
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Ventricular septal defect |
OMIM:612528 |
Kapur-Toriello Syndrome |
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Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:244300 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Atrial septal defect, Abnormal mitral valve morphology, Umbilical hernia |
ORPHA:1292 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
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Recurrent respiratory infections, Secundum atrial septal defect, Umbilical hernia |
OMIM:619758 |
Sotos Syndrome |
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Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... |
OMIM:117550 |
Noonan Syndrome 13 |
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Atrial septal defect, Mitral valve prolapse |
OMIM:619087 |
Distal Xq28 Microduplication Syndrome |
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Recurrent upper respiratory tract infections, Patent ductus arteriosus, Patent foramen ovale |
ORPHA:293939 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Beaulieu-Boycott-Innes Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Down Syndrome |
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Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
7Q31 Microdeletion Syndrome |
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Patent ductus arteriosus after birth at term, Recurrent respiratory infections, Atrial septal defect |
ORPHA:251061 |
Diamond-Blackfan Anemia 7 |
|
Tetralogy of Fallot, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal ... |
OMIM:612562 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:300998 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Abnormal heart morphology, Atrioventricular canal defect, Pleural effusion, Branchial anomaly, Ve... |
ORPHA:453499 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:617190 |
Tarp Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Neonatal death |
OMIM:311900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... |
OMIM:253800 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Atrial septal defect |
ORPHA:459061 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Recurrent respiratory... |
ORPHA:79345 |
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 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent aspiration pneumonia, Recurrent pneumonia, Patent ductus arteriosus, Ventricular septal... |
OMIM:300472 |
Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Meningocele, Ventricular septal defect |
OMIM:620511 |
Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... |
OMIM:605275 |
Methimazole Embryofetopathy |
|
Ventricular septal defect |
ORPHA:1923 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Intellectual Disability-Strabismus Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:363528 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect |
OMIM:614749 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2328 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Recurrent lower respiratory tract infections, Patent ductus arteriosus, Atrial septal defect |
OMIM:618005 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Peripheral pulmonary artery stenosis, Atrial septal defect |
ORPHA:436003 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect |
OMIM:619995 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia |
OMIM:251290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Left ventricular hypertrophy, Atrial septal defect, Mitral valve... |
ORPHA:230851 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Pate... |
OMIM:600460 |
Hoxha-Aliu Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect |
OMIM:620662 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Umbilical hernia, Emphyse... |
OMIM:613177 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619184 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
Mogs-Cdg |
|
Pulmonary edema, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect |
ORPHA:79330 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Atrial septal defect |
ORPHA:261311 |
Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... |
ORPHA:2473 |
Wiedemann-Steiner Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:605130 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Encephalocele, Ventricular se... |
OMIM:100300 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... |
OMIM:610443 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Patent foramen ovale, Ventricular septal defect, Neonatal death, Anencephaly, Patent... |
OMIM:269860 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617022 |
Chops Syndrome |
|
Aspiration pneumonia, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:616368 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:397709 |
Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Common atrium |
OMIM:619143 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:602482 |
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 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect |
ORPHA:217346 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Atrial septal defect |
ORPHA:70 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Patent foramen ovale |
OMIM:619179 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Aortic Arch Interruption |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... |
ORPHA:2299 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:261279 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Hypertrophic cardiomyopathy, Patent foramen ovale, Ventricu... |
OMIM:617506 |
White-Sutton Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616364 |
Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Pulmonary artery dilatation, Atrial septal defect |
OMIM:613834 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Right atrial enlargement, Atrial septal defect |
OMIM:615219 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Fg Syndrome Type 1 |
|
Atrial septal defect, Mitral valve prolapse, Umbilical hernia |
ORPHA:93932 |
Distal Deletion 10Q |
|
Spina bifida occulta, Atrial septal defect, Patent ductus arteriosus |
ORPHA:96148 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
Chromosome 10Q26 Deletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:609625 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Recurrent... |
ORPHA:261330 |
Microcephaly 30, Primary, Autosomal Recessive |
|