Ventricular Septal Defect 1 |
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Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Spinal Muscular Atrophy, Type I |
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Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Death in child... |
OMIM:253300 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Cayler Cardiofacial Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Heart Defects-Limb Shortening Syndrome |
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Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Pulmonary Atresia With Ventricular Septal Defect |
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Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Tricuspid Atresia |
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Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Ventricular Septal Defect 3 |
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Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Laterality Defects, Autosomal Dominant |
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Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Distal 7Q11.23 Microdeletion Syndrome |
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Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Megabladder, Congenital |
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Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Congenital Heart Defects, Multiple Types, 5 |
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Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Atrial Septal Defect 2 |
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Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
8p23.1 deletion syndrome |
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Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Adams-Oliver Syndrome 4 |
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Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Diamond-Blackfan Anemia 16 |
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Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Heterotaxy, Visceral, 7, Autosomal |
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Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Congenital Heart Defects, Multiple Types, 4 |
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Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Cardiomyopathy, Dilated, 2H |
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Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Atrial Septal Defect 4 |
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Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
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Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
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 |
Sonoda Syndrome |
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Ventricular septal defect |
OMIM:270460 |
Partial Atrioventricular Septal Defect |
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Recurrent respiratory infections, Bicuspid aortic valve, Coronary sinus enlargement, Partial atri... |
ORPHA:1330 |
Cranioacrofacial Syndrome |
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Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Right Atrial Isomerism |
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Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
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Pulmonary artery atresia, Ventricular septal defect, Death in childhood |
OMIM:613759 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
OMIM:601612 |
Heterotaxy, Visceral, 6, Autosomal |
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Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... |
OMIM:614779 |
Atrioventricular Septal Defect 5 |
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Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Death in infancy, Ventricular septal defect |
OMIM:614876 |
Fetal Minoxidil Syndrome |
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Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Microphthalmia, Syndromic 12 |
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Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
Atrial Septal Defect 8 |
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Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Indomethacin Embryofetopathy |
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Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Ciliary Dyskinesia, Primary, 14 |
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Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
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 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Catel-Manzke Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Chromosome 15Q14 Deletion Syndrome |
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Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Cardiomyopathy, Dilated, 2D |
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Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... |
OMIM:619371 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration |
OMIM:618330 |
Heterotaxy, Visceral, 8, Autosomal |
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Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... |
OMIM:617205 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Ciliary Dyskinesia, Primary, 40 |
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Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Atrioventricular canal defect, ... |
OMIM:618300 |
Feingold Syndrome Type 2 |
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Ventricular septal defect |
ORPHA:391646 |
Fadd-Related Immunodeficiency |
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Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
16P13.11 Microduplication Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Heterotaxy, Visceral, 12, Autosomal |
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Ventricular septal defect, Dextrocardia, Left Isomerism, Pulmonary artery atresia, Situs inversus... |
OMIM:619702 |
Xk Aprosencephaly Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Primary Non-Essential Cutis Verticis Gyrata |
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Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Congenital Heart Defects, Multiple Types, 6 |
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Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Li-Campeau Syndrome |
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Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Bardet-Biedl Syndrome 19 |
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Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Atrial Septal Defect 6 |
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Atrial septal defect |
OMIM:613087 |
Nemaline Myopathy 9 |
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Ventricular septal defect |
OMIM:615731 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Cardiomyopathy |
OMIM:249270 |
Atrial Septal Defect 1 |
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Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Feingold Syndrome 2 |
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Ventricular septal defect |
OMIM:614326 |
Congenital Myopathy 11 |
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Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Cardiac Septal Defects With Coarctation Of The Aorta |
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Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Double Outlet Right Ventricle |
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Ventricular septal defect, Double outlet right ventricle, Heterotaxy, Hypoplastic left heart, Pul... |
ORPHA:3426 |
Hadziselimovic Syndrome |
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Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Congenital Heart Defects, Multiple Types, 3 |
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Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
Congenital Heart Defects, Multiple Types, 2 |
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Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lo... |
ORPHA:1120 |
Developmental And Epileptic Encephalopathy 102 |
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Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Bardet-Biedl Syndrome 2 |
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Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
46,Xx Sex Reversal 5 |
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Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Left Ventricular Noncompaction 1 |
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Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Ciliary Dyskinesia, Primary, 30 |
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Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Polysyndactyly With Cardiac Malformation |
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Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Atrial septal defect |
ORPHA:52056 |
Microcephaly-Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Mmep Syndrome |
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Ventricular septal defect |
ORPHA:3434 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
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Atrial septal defect |
OMIM:113301 |
Coenzyme Q10 Deficiency, Primary, 7 |
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Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Aortic Valve Disease 3 |
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Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Meacham Syndrome |
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Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Dextrocardia, Isomerism, Transposition of the great arteries, Pulmonary hypoplasia, Neonatal deat... |
OMIM:314390 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
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Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Heterotaxy, Visceral, 4, Autosomal |
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Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
8Q12 Microduplication Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
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 |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
OMIM:619657 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect, Mitral st... |
ORPHA:2248 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... |
ORPHA:3097 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... |
OMIM:615355 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... |
OMIM:618316 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Abnormal heart morphology |
ORPHA:352490 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot |
OMIM:300887 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... |
OMIM:601186 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Perimem... |
OMIM:600987 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ... |
OMIM:270100 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery |
ORPHA:1166 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy |
ORPHA:101028 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hy... |
ORPHA:2970 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Hypoplast... |
ORPHA:392 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
3C Syndrome |
|
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral va... |
ORPHA:7 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent foramen... |
OMIM:618950 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:615502 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... |
ORPHA:2041 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... |
OMIM:618282 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Aspiration pneumonia, Lef... |
OMIM:619167 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Encephalocele, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs |
ORPHA:93274 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... |
ORPHA:1842 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect |
OMIM:611134 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Ventricular septal defect |
OMIM:620210 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... |
ORPHA:1908 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Death in infancy, Pericardial effusion, Multiple muscular ventricular septa... |
OMIM:620070 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood |
OMIM:614582 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat... |
ORPHA:60041 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect |
OMIM:147800 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Alagille Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia |
ORPHA:2655 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... |
OMIM:617478 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
OMIM:618494 |
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, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Transketolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:488618 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis |
ORPHA:896 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia |
OMIM:202650 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
3-Methylglutaconic Aciduria, Type V |
|
Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:610198 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect |
OMIM:618354 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Abnormal tri... |
ORPHA:90308 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ve... |
OMIM:208085 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri... |
OMIM:267010 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... |
ORPHA:477817 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... |
ORPHA:99125 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aortopulmo... |
ORPHA:99050 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615879 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Pulmonary... |
ORPHA:1335 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... |
OMIM:609029 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... |
ORPHA:85202 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... |
OMIM:612582 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale |
ORPHA:88630 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618870 |
Trisomy 13 |
|
Atrial septal defect, Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:3378 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614576 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Atr... |
OMIM:608149 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Atrioventricular canal defect, Abdominal situs inversus, Pulmonic sten... |
OMIM:619123 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Transaldolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:606003 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... |
ORPHA:2257 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect |
OMIM:614815 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion, Pulmonary edema |
OMIM:617300 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... |
ORPHA:3384 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale |
OMIM:618821 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:603387 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect |
OMIM:616651 |
Seckel Syndrome 9 |
|
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... |
OMIM:616777 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... |
ORPHA:363444 |
Diabetic Embryopathy |
|
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Transposition of the great art... |
ORPHA:1926 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa... |
OMIM:616866 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Umbilical hernia, Hypert... |
OMIM:612938 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... |
OMIM:617660 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Recurrent respiratory infections |
ORPHA:1790 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Umbilical hernia, Ventricular septal defect |
OMIM:618846 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Pulmonary artery s... |
OMIM:600001 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pleu... |
OMIM:616564 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:609053 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:611553 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:2143 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Atrial septal... |
ORPHA:26793 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... |
ORPHA:96170 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cardiomegaly, Patent ductus arteriosus, Recurrent pneumonia, Br... |
ORPHA:980 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, Neonatal death, Atrial se... |
OMIM:208540 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Pate... |
OMIM:601808 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Neonatal death, Atrial sep... |
OMIM:265380 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:614857 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy |
OMIM:619383 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... |
OMIM:300963 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Patent foramen ovale, Right ventri... |
OMIM:616028 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Acrocardiofacial Syndrome |
|
Death in infancy, Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arter... |
ORPHA:2008 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, Transposition of the g... |
OMIM:201000 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... |
ORPHA:209905 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620327 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Recurrent aspiration pneumonia |
ORPHA:79243 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... |
ORPHA:3427 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Patent ductus arteriosus... |
OMIM:617303 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleur... |
OMIM:616897 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:614846 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... |
ORPHA:371428 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Patent du... |
ORPHA:99776 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Recurrent pneumonia |
OMIM:619314 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs |
ORPHA:1860 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, A... |
OMIM:264480 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Abnormal lung morphology, Patent ductus arteriosus, Ab... |
ORPHA:1708 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Stevenson-Carey Syndrome |
|
Atrial septal defect |
OMIM:611961 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Recurrent pneumonia, Ventricular septal defect |
OMIM:616449 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:254346 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Pulmonary lymphang... |
OMIM:235510 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:614886 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Ventricular septal defect |
OMIM:169400 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi... |
OMIM:605275 |
Alagille Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Peripheral pulmonary arter... |
ORPHA:52 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Fanconi Anemia, Complementation Group B |
|
Abnormal lung lobation, Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
OMIM:617360 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Aortic Valve Disease 2 |
|
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus |
ORPHA:404443 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections |
OMIM:620194 |
Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Recurrent upper respiratory tract infections, Ventricular septal defect |
ORPHA:3078 |
Phaver Syndrome |
|
Pulmonary artery atresia, Myelomeningocele, Ventricular septal defect |
ORPHA:2876 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Abnormal lung lobation, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:614114 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... |
ORPHA:96167 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death |
OMIM:620244 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology |
ORPHA:1292 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Pleural effusion, Patent ductus arteriosus |
OMIM:617397 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:619720 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... |
OMIM:117550 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Ventricular septal defect, Repeated pneumothoraces |
OMIM:617602 |
Distal Triplication 15Q |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Abnormal heart morphology |
ORPHA:314588 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Congenital pulmona... |
OMIM:243150 |
Noonan Syndrome 13 |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:619087 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale |
ORPHA:293939 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Par... |
OMIM:190685 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Neonatal death |
OMIM:311900 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis |
ORPHA:459061 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:617190 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Pleural effusion, Br... |
ORPHA:453499 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... |
OMIM:253800 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Umbilical hernia, Recurrent respiratory infections |
OMIM:619758 |
Methimazole Embryofetopathy |
|
Ventricular septal defect |
ORPHA:1923 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:300998 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus after birth at term |
ORPHA:251061 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:363528 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... |
ORPHA:79345 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis |
OMIM:614749 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:447980 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus |
OMIM:618005 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Left ventricular hypertrophy, Abnormal heart valve morphology, Mitral valve... |
ORPHA:230851 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... |
OMIM:300472 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619184 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Death in childhood,... |
OMIM:600460 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... |
OMIM:301056 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Patent ductus arteriosus, Patent foramen ovale |
OMIM:251290 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology |
ORPHA:261311 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:605130 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal h... |
ORPHA:354 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Umb... |
OMIM:613177 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:397709 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypop... |
OMIM:100300 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Anencephaly, Pulmonary hypoplas... |
OMIM:269860 |
Mogs-Cdg |
|
Atrial septal defect, Pulmonary edema, Left ventricular hypertrophy, Cardiomegaly |
ORPHA:79330 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
White-Sutton Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616364 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610443 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect |
OMIM:619143 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:261279 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect |
ORPHA:217346 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Patent foramen ovale |
OMIM:619179 |
Distal Deletion 10Q |
|
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta |
ORPHA:96148 |
Fg Syndrome Type 1 |
|
Atrial septal defect, Umbilical hernia, Mitral valve prolapse |
ORPHA:93932 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:609625 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Pulmonary artery dilatation, Patent ductus arteriosus |
OMIM:613834 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Chops Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... |
OMIM:616368 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:605039 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Recurrent aspiration pneumonia, Recurrent infections due to aspiration |
ORPHA:70 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P... |
OMIM:300707 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis |
OMIM:300867 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... |
ORPHA:261330 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pat... |
OMIM:617506 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus |
ORPHA:2637 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:2745 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:618775 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Ventricular septal defect, Pulmonary lymphangiectasia |
OMIM:235255 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect |
ORPHA:2728 |
Genitopatellar Syndrome |
|
Atrial septal defect, Pulmonary hypoplasia |
ORPHA:85201 |
Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Ventricular septal defect |
OMIM:614424 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:612530 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Patent ductus arteriosus, Pneumonia |
OMIM:603467 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Syndromic Diarrhea |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:84064 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary... |
ORPHA:1507 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Recurrent pneumonia, Ventricular septal defect |
ORPHA:464738 |
Alg9-Cdg |
|
Ventricular septal defect, Pericardial effusion, Abnormal lung lobation, Abnormal heart morpholog... |
ORPHA:79328 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Patent ductus arteriosus, Abnormal heart morphology, Atrial sep... |
ORPHA:505248 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus |
OMIM:300968 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defe... |
OMIM:301030 |
Zellweger Syndrome |
|
Death in infancy, Ventricular septal defect |
ORPHA:912 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect |
OMIM:616920 |
Trisomy 1Q |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261344 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:602535 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Pulmoni... |
OMIM:602782 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
Loeys-Dietz Syndrome 5 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:615582 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
ORPHA:1465 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Death in adolescence |
OMIM:614866 |
Oligomeganephronia |
|
Secundum atrial septal defect, Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Abnormal heart morphology, Atrial septal defect... |
ORPHA:369837 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:614080 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Common atrium |
OMIM:225500 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardi... |
OMIM:610505 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect |
OMIM:614207 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Meningocele, Umbilica... |
OMIM:130720 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Umb... |
OMIM:192430 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydrane... |
ORPHA:1393 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Occipital meningocele, Anencephaly, Pulmonary hypoplasia |
OMIM:616546 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art... |
ORPHA:261494 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
OMIM:607323 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent lower respiratory tract infections, Ventricular septal defect, Death in adolescence |
OMIM:619229 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonar... |
OMIM:617063 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
OMIM:222448 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
Cardiofaciocutaneous Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... |
ORPHA:1340 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... |
ORPHA:163956 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Chylothorax |
OMIM:153400 |
Lymphatic Malformation 6 |
|
Atrial septal defect, Pleural effusion, Chylothorax |
OMIM:616843 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect |
OMIM:207410 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect |
OMIM:219730 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Patent ductus arteriosus, Ventricular septal defect, Pulmonary hypoplasia, Death in childhood |
OMIM:214100 |
3Mc Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Ventricular septal defect |
OMIM:257920 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia/Hypoplasia of the lung... |
ORPHA:2092 |
Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:115150 |
Trisomy 18 |
|
Atrial septal defect, Anencephaly, Ventricular septal defect, Spina bifida |
ORPHA:3380 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... |
ORPHA:2209 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Atrial septal defe... |
OMIM:619268 |
Renal Agenesis |
|
Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:411709 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect |
ORPHA:166035 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:263520 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300712 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Recurrent aspiration pneumo... |
ORPHA:280633 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Pulmonary artery at... |
OMIM:616894 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
Jacobsen Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:147791 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect |
OMIM:611174 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr... |
OMIM:309500 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lung... |
ORPHA:280 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261323 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:769 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Recurrent respiratory infections |
ORPHA:398069 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... |
ORPHA:2369 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Umbilica... |
ORPHA:2962 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septa... |
OMIM:274000 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:618162 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
Fryns Syndrome |
|
Ventricular septal defect, Stillbirth, Chylothorax, Pulmonary hypoplasia, Atrial septal defect |
OMIM:229850 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Recurrent upper and lower respiratory tract infections, Ventricular sep... |
ORPHA:79329 |
Vici Syndrome |
|
Recurrent respiratory infections, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, L... |
OMIM:242840 |
7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:96121 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:1692 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Atelectasis, Patent... |
ORPHA:567 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Death in infancy, Bicuspid aortic valve, Patent ductus arteriosus, Pneumoth... |
OMIM:612289 |
C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:257300 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... |
OMIM:256520 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... |
ORPHA:3047 |
Pallister-Hall Syndrome |
|
Neonatal death, Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect |
OMIM:146510 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Cor triatriatum, Secundum atrial septal defect, Patent ductus a... |
OMIM:612541 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Um... |
ORPHA:97360 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:277600 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Ventricular septal defect |
OMIM:300373 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:2886 |
Restrictive Dermopathy 1 |
|
Patent ductus arteriosus, Hydropic placenta, Stillbirth, Short umbilical cord, Neonatal death, Pu... |
OMIM:275210 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Abnormal mitral valve morphology, Cardiomyopathy, Abnormal aort... |
ORPHA:576 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
Omodysplasia 1 |
|
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Patent foramen ovale |
OMIM:618454 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... |
ORPHA:352665 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Miscarriage, Ventricular septal defect, Pulmonary artery hy... |
OMIM:245150 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary lymphangiectasia |
ORPHA:1655 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... |
ORPHA:363958 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal lung morphology, Patent ductus arteriosus, Abnormal lung loba... |
ORPHA:141127 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:163979 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal defect, A... |
ORPHA:536471 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... |
ORPHA:1519 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Paten... |
OMIM:616268 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... |
ORPHA:466791 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Larsen Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
OMIM:150250 |
Mosaic Variegated Aneuploidy Syndrome |
|
Atrial septal defect, Abnormal lung lobation, Subvalvular aortic stenosis |
ORPHA:1052 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pneumothorax, Hypoplastic right heart |
OMIM:617403 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Recurrent sinusitis |
OMIM:213980 |
Hardikar Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, ... |
OMIM:301068 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Respiratory tract infection, Patent ductus arteriosus, R... |
OMIM:180849 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia... |
ORPHA:818 |
Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Ventricular septal defect |
OMIM:300000 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Atrial septal defect, Pleural effusion, Atriov... |
OMIM:619573 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Trichothiodystrophy |
|
Cardiomyopathy, Recurrent bronchopulmonary infections, Umbilical hernia, Ventricular septal defect |
ORPHA:33364 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Recurrent respiratory infections, Cor triatriatum, Ventricular septa... |
OMIM:619534 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Perimembranou... |
ORPHA:508498 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Pulmonary artery aneur... |
OMIM:609192 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Ventricular septal defect, Muscular ventricular septal defect, Stillbirth, Deat... |
OMIM:210710 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Juvenile Polyposis Of Infancy |
|
Atrial septal defect, Patent ductus arteriosus, Abnormal heart morphology |
ORPHA:79076 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Pneumothorax, Mitral valve prolapse, Biventricular hypertrophy, Atrial septal defect, Patent fora... |
OMIM:617402 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Umbilical hernia |
ORPHA:373 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:600268 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... |
ORPHA:353281 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect |
OMIM:618891 |
Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:619869 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Death in infancy |
OMIM:609069 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Atrial septal defect, ... |
OMIM:139210 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Truncus arteriosus, Abnormal lung lobation |
ORPHA:2538 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Spinal dysraphism,... |
ORPHA:2162 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Atrial septal defect, Death in infancy, Patent ductus arteriosus |
OMIM:300868 |
Jacobsen Syndrome |
|
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Spina bifida, Hypo... |
ORPHA:2308 |
Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Recurrent pneumonia, Atrial septal defect, Left ventricular hypertrophy... |
OMIM:613610 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... |
OMIM:280000 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620005 |
Zttk Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Unilateral lung agenesis, Ventricular septal defect |
OMIM:617140 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Double outlet right ventricle,... |
OMIM:300166 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... |
OMIM:157800 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect |
OMIM:619471 |
Fanconi Anemia |
|
Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve... |
ORPHA:84 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Pu... |
OMIM:270400 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Recurrent respiratory infections, Atrial septal defect, Patent foramen ovale, Rig... |
OMIM:620186 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Umbilical hernia, Aortic ... |
OMIM:608328 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:2710 |
Trichohepatoenteric Syndrome 1 |
|
Large placenta, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:222470 |
Costello Syndrome |
|
Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... |
OMIM:218040 |
Penile Agenesis |
|
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:49 |
Helsmoortel-Van Der Aa Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Mitral valve prolapse, Abnormal heart mor... |
OMIM:615873 |
Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Pulmonary hypoplasia, Te... |
ORPHA:1199 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Dilatation of the ve... |
OMIM:619991 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Miscarriage, Large placenta, Pulmonary artery stenosis, Spinal dysraph... |
ORPHA:96334 |
Alagille Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery... |
OMIM:118450 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:438213 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve |
OMIM:271640 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect |
OMIM:619512 |
Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Tricuspid stenosis |
OMIM:105650 |
Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Patent ductus arteriosus, Short umbilical cord, Transposition of th... |
ORPHA:1662 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... |
ORPHA:97214 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... |
ORPHA:459070 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect |
OMIM:620076 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pneumothorax, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, Umbilical he... |
OMIM:601776 |
Degcags Syndrome |
|
Ventricular septal defect, Pneumonia, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal ... |
OMIM:619488 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Pleural effusion, Chylothorax |
ORPHA:2526 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Chylothorax, Pulmonic stenosis, Atrial septa... |
OMIM:163950 |
Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Patent ductus arter... |
ORPHA:955 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
Oculodentodigital Dysplasia |
|
Atrial septal defect |
OMIM:164200 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect |
OMIM:609460 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:117650 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Ventricular septal defect, Pulmonary hypoplasia, Aortopulmonary window |
OMIM:620025 |
Diamond-Blackfan Anemia |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology |
ORPHA:124 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembrano... |
OMIM:612474 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Multiple pulmonary cysts, Ventricular septal defect |
OMIM:619418 |
Turnpenny-Fry Syndrome |
|
Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valv... |
OMIM:618371 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Spontaneous pneumothorax, Patent ductus arteriosus, Bicuspid pulmonary val... |
OMIM:610168 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... |
ORPHA:353277 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
ORPHA:3138 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Abnormal lung lob... |
OMIM:236680 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect |
ORPHA:464311 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aspiration pneumo... |
ORPHA:444077 |
Williams Syndrome |
|
Abnormal endocardium morphology, Death in early adulthood, Recurrent respiratory infections, Over... |
ORPHA:904 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Atrial septal defect, Total anomalous pulmonary venous return |
OMIM:609945 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Pneumonia |
OMIM:122470 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale |
OMIM:616975 |
Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect |
ORPHA:268249 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect |
OMIM:227645 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect |
ORPHA:464306 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus ... |
ORPHA:508488 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Congenital pulmonary airway malformation |
ORPHA:436252 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Tetralogy ... |
OMIM:135900 |
Viss Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Patent ductus arteriosus, Pneumothorax, Pu... |
OMIM:619472 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio... |
OMIM:214800 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... |
OMIM:235730 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Hajdu-Cheney Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:102500 |
Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:261337 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Recurrent upper respiratory tract infections, Neonatal death, Death in childhoo... |
OMIM:308205 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis |
OMIM:164280 |
Poland Syndrome |
|
Atrial septal defect, Encephalocele, Spina bifida occulta, Dextrocardia |
ORPHA:2911 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Spina bifida occulta, Ventricular septal defect, Mitral valv... |
ORPHA:500095 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect |
OMIM:269150 |
Ctcf-Related Neurodevelopmental Disorder |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus, Pul... |
ORPHA:363611 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Occipital encephalocele, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cardiomyopathy, Tota... |
OMIM:312870 |
Catel-Manzke Syndrome |
|
Umbilical hernia, Overriding aorta, Ventricular septal defect, Dextrocardia |
OMIM:616145 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Patent ductus arteriosus, Pneumothorax, Mitral va... |
OMIM:613795 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Recurrent upper and ... |
ORPHA:672 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ... |
OMIM:194050 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h... |
ORPHA:268261 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis |
OMIM:250220 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Patent ductus arteriosus after birth at term, Abnormal heart morphology... |
ORPHA:500150 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia |
OMIM:147920 |
Diphallia |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1934 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Death in childhood, At... |
OMIM:243800 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Umbilical hernia, Mesocardia |
OMIM:136140 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:194190 |
Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:606170 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:619475 |
Otopalatodigital Syndrome, Type Ii |
|
Atrial septal defect, Umbilical hernia, Stillbirth, Spina bifida |
OMIM:304120 |
Digeorge Syndrome |
|
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Recurrent ... |
OMIM:188400 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart |
ORPHA:99413 |
Mosaic Monosomy X |
|
Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart |
ORPHA:99228 |
Monosomy X |
|
Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart |
ORPHA:99226 |
Turner Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart |
ORPHA:881 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Umb... |
OMIM:261540 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Cornelia De Lange Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:199 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Frontal encephalocele, Stillbirth, Atrial se... |
OMIM:268300 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect |
OMIM:300896 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy, Recurrent upper and lower respiratory tract infections, Pat... |
ORPHA:480880 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Tetralogy of Fallot |
ORPHA:2044 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:616682 |
Sotos Syndrome |
|
Ventricular septal defect, Small cell lung carcinoma, Patent ductus arteriosus, Abnormal heart mo... |
ORPHA:821 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:613355 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Umbilical hernia, Recurrent pneumonia, Ventricular septal defect, Recurrent bronchitis |
OMIM:620330 |
Townes-Brocks Syndrome |
|
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... |
ORPHA:857 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Hypoplastic left h... |
OMIM:619503 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect |
ORPHA:513456 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Aortic valve stenosis, Pulmonary... |
OMIM:601803 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
OMIM:181450 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... |
ORPHA:261552 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Patent fora... |
OMIM:216340 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, ... |
OMIM:164210 |