| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology |
OMIM:617744 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Pat... |
ORPHA:1209 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... |
OMIM:617205 |
| Sonoda Syndrome |
|
Depressed nasal bridge, Ventricular septal defect |
OMIM:270460 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... |
OMIM:270100 |
| White Forelock With Malformations |
|
Atrial septal defect, Bronchomalacia |
OMIM:277740 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology |
DECIPHER:39 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... |
OMIM:615779 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:249670 |
| Fetal Minoxidil Syndrome |
|
Depressed nasal bridge, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Patent ductus arteriosus, Neonatal death, Bilateral lung agenesis, Abnormal car... |
OMIM:601612 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... |
OMIM:616749 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:611363 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... |
OMIM:208530 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... |
ORPHA:1330 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Pulmonary artery atresia, Death in childhood, Ventricular septal defect |
OMIM:613759 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Ventricular septal defect |
OMIM:614876 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal a... |
OMIM:613807 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormality of the pharynx, Ventricular septal defect |
ORPHA:3469 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect |
OMIM:613751 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... |
OMIM:615524 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short nose, Atrial septal defect, Bulbous nose, Ventricular septal defect |
OMIM:613458 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614262 |
| Coffin-Siris Syndrome 10 |
|
Anteverted nares, Laryngomalacia, Ventricular septal defect |
OMIM:618506 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Anteverted nares, Stillbirth, Ventricular septal defect |
OMIM:263630 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect, Laryngeal stenosis |
ORPHA:3189 |
| Hadziselimovic Syndrome |
|
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... |
OMIM:612946 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... |
OMIM:108900 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy, Bulbous nose, Wide nasal bridge |
ORPHA:93946 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... |
OMIM:614980 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... |
ORPHA:401935 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Bulbous nose, Pulmonic stenosis, Hypertrophic cardiomyopathy, Depressed nas... |
OMIM:618499 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... |
ORPHA:261243 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Shashi-Pena Syndrome |
|
Atrial septal defect, Broad nasal tip |
OMIM:617190 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Prominent nasal bridge... |
OMIM:618974 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... |
ORPHA:3426 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge |
OMIM:601450 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... |
OMIM:618316 |
| Left Ventricular Noncompaction 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... |
OMIM:604169 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect |
OMIM:249270 |
| Timothy Syndrome |
|
Ventricular septal defect, Bronchitis, Pneumonia, Patent ductus arteriosus, Cardiomegaly, Patent ... |
OMIM:601005 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Wide nasal bridge, Ventricular septal defect |
ORPHA:228399 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect |
ORPHA:251076 |
| Atrial Septal Defect 1 |
|
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... |
OMIM:108800 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Truncus arteriosus, Ventricular septal defect |
OMIM:228940 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Depressed nasal bridge, Short nose, Ventricular septal defect |
ORPHA:261120 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve |
OMIM:618496 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Ventricular hypertrophy, Short nose, Atrial septal defect |
OMIM:300887 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal hypertrophy, Ventricular septal defect |
OMIM:614947 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology |
OMIM:614954 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Patent ductus arterios... |
OMIM:613870 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Depressed nasal bridge, Abnormal nasal morphology, Ventricula... |
ORPHA:83473 |
| Li-Campeau Syndrome |
|
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619189 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve |
OMIM:615981 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Tetralogy of Fallot, Transposition o... |
ORPHA:1913 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Spina bifida, Abnormal aortic valve morp... |
ORPHA:1120 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... |
OMIM:618652 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Depressed nasal bridge, Ventricular septal defect |
OMIM:616901 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:612561 |
| Hypertelorism And Tetralogy Of Fallot |
|
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... |
OMIM:239711 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Choanal atresia, Bila... |
OMIM:608572 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Patent ductus arterio... |
OMIM:608406 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect |
OMIM:601355 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... |
OMIM:220210 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Abnormal heart morphology, Umbilical hernia, Wide nasal bridge, Anteverted ... |
ORPHA:352490 |
| Mental Retardation, Autosomal Recessive 65 |
|
Atrial septal defect, Prominent nasal bridge, Bulbous nose |
OMIM:618109 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... |
OMIM:179613 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Right ventricular hypertrophy, Paten... |
OMIM:614261 |
| Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abno... |
ORPHA:2847 |
| Mcdonough Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Promin... |
OMIM:248950 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Anteverted nares, Umbilical hernia |
ORPHA:1035 |
| Filippi Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae, Ventricular septal defect |
OMIM:272440 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Underdeveloped nasal alae, Choanal atresia, Wide nasal bridge, Wide nose |
ORPHA:521308 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia |
OMIM:615879 |
| Megalencephaly |
|
Atrial septal defect, Wide nasal bridge |
ORPHA:2477 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Isomerism, Tracheoesophageal fistula, Transposition of the great a... |
OMIM:314390 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus arteriosus, Pulm... |
OMIM:615355 |
| Meacham Syndrome |
|
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... |
ORPHA:3097 |
| Cardiofaciocutaneous Syndrome 3 |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
| Teebi Hypertelorism Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Wide nasal bridge, Depressed nasal b... |
OMIM:145420 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Patent duc... |
OMIM:610338 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:613355 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wide nasal bridge, Depressed nasal bridge |
ORPHA:261295 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Mitral st... |
ORPHA:2248 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Abdominal situ... |
OMIM:306955 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
| Aphalangy With Hemivertebrae |
|
Pulmonary hypoplasia, Ventricular septal defect |
OMIM:207620 |
| Congenital Rubella Syndrome |
|
Abnormality of the pulmonary artery, Atrial septal defect, Patent ductus arteriosus, Ventricular ... |
ORPHA:290 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Depressed nasal bridge, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618142 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ground-glass opacification, Atrial septal defect, Ventricular septal defect, Pulmonary fibrosis, ... |
OMIM:610978 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect |
OMIM:231060 |
| Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Bicuspid ao... |
OMIM:619149 |
| 3C Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal mitral valve morphology, Ab... |
ORPHA:7 |
| Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect, Wide nose, Depressed nasal bridge |
OMIM:616938 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Prominent nasal bridge, Atrial septal defect, Anteverted nares |
OMIM:608688 |
| Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Ventricular septal defect |
OMIM:619083 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Overr... |
OMIM:601927 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Prominent nasal bridge, Laryngomalacia, Ventricular septal defect |
ORPHA:261190 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Double outlet right ventricle, Me... |
OMIM:605376 |
| Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Prominent nasal bridge |
OMIM:605321 |
| Keutel Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Pulm... |
ORPHA:85202 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect |
OMIM:178650 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Bulbous nose |
ORPHA:466926 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia |
OMIM:614435 |
| Renpenning Syndrome |
|
Prominent nose, Heterotaxy |
ORPHA:3242 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Double outlet right ... |
ORPHA:185 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia,... |
ORPHA:500159 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Tetralogy of Fallot, ... |
ORPHA:261183 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Anteverted nares, Dep... |
ORPHA:75389 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... |
ORPHA:284169 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect, Wide nose, Wide nasal bridge |
ORPHA:89844 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Wide nasal bridge, Ventricular septal defect |
OMIM:617360 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries |
OMIM:614779 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:1455 |
| Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy |
ORPHA:101028 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect |
ORPHA:2516 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Wide nasal bridge, Ventricular septal defect |
OMIM:314320 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1166 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... |
ORPHA:210122 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Atrioventricular canal defect... |
OMIM:600123 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Right ventricular hypertrophy, Death in infancy, Ventricular septal defect |
OMIM:208085 |
| Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Patent ductus arteriosus, Anteverted nares, Recurrent respiratory infection... |
ORPHA:1842 |
| Mental Retardation, Buenos Aires Type |
|
Prominent nose, Atrial septal defect, Wide nasal bridge |
OMIM:249630 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:614300 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Laryngotracheomalacia, Spinal dysraphism, Aortic valve stenosis, Laryngeal ... |
OMIM:617660 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Wide nasal bridge, Ventricular septal defect |
ORPHA:3369 |
| Prune Belly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of ... |
ORPHA:2970 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Tracheoesophageal fistula |
ORPHA:261272 |
| Zechi-Ceide Syndrome |
|
Wide nasal bridge, Atrial septal defect, Wide nose, Abnormal heart morphology |
ORPHA:217017 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Depressed nasal bridge |
ORPHA:2655 |
| Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Narrow nasal bridge, Tracheomalacia, Atelectasis |
ORPHA:896 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Bulbous nose, Ventricular septal defect, Patent ductus arteriosus, Umbilica... |
ORPHA:329224 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:600987 |
| Lymphatic Malformation 7 |
|
Pericardial effusion, Atrial septal defect, Pulmonary edema |
OMIM:617300 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Short nose, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Wide nose,... |
OMIM:613457 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Hypoplasti... |
OMIM:601186 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Patent ductus... |
ORPHA:392 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Pulmonic stenosis, Tetralogy of Fallo... |
OMIM:610205 |
| Woods Syndrome |
|
Wide nasal bridge, Ventricular septal defect |
OMIM:615236 |
| Emanuel Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... |
OMIM:609029 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect |
OMIM:614475 |
| Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Atrial septal defect, Patent ductus arteriosus, Depressed nasal ... |
ORPHA:93274 |
| Mental Retardation, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:615502 |
| Even-Plus Syndrome |
|
Patent foramen ovale, Atrial septal defect, Short nose |
OMIM:616854 |
| Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
| White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
| Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... |
OMIM:618280 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Pulmonary hypoplasia, Patent ductus arteriosus |
OMIM:616867 |
| Oculoauriculofrontonasal Syndrome |
|
Wide nose, Underdeveloped nasal alae, Ventricular septal defect |
ORPHA:398156 |
| Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngomalacia, Pulmon... |
OMIM:608149 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Ventricular septal defect |
OMIM:602501 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Neonatal death, Aspiration pneumonia, Left ventricular hypertrophy, Paten... |
OMIM:619167 |
| Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300963 |
| Transaldolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:606003 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Ventricular septal defect |
ORPHA:2256 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Prominent nasal bridge |
ORPHA:776 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Patent foramen ovale, Recurre... |
OMIM:618950 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... |
ORPHA:477817 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Wide nasal bridge |
OMIM:611087 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
| Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect |
OMIM:147800 |
| Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... |
ORPHA:488618 |
| Klippel-Trénaunay Syndrome |
|
Abnormality of the pulmonary artery, Atrial septal defect, Patent ductus arteriosus, Abnormal tri... |
ORPHA:90308 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Underdeveloped nasal alae, Ventricular septal defect, Recurrent pne... |
OMIM:616651 |
| Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Hypertrophic cardiomyopathy |
ORPHA:255241 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Ventricular septal defect |
ORPHA:93267 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... |
ORPHA:3304 |
| Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
| Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Broad nasal tip, Depressed nasal bridge |
OMIM:617808 |
| Desbuquois Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect |
ORPHA:1425 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Spinal dysraphism, Wide nasal bridge, Meningoc... |
ORPHA:1908 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Ri... |
OMIM:267010 |
| Tyshchenko Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:615102 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect |
ORPHA:3449 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... |
ORPHA:216694 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Laryngomalacia, Pulmonic stenosis, Hypertrophic cardiomyopathy, Depressed n... |
OMIM:611553 |
| Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... |
ORPHA:1461 |
| Serkal Syndrome |
|
Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defect |
ORPHA:139466 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Perimembranous ventric... |
ORPHA:363444 |
| Schuurs-Hoeijmakers Syndrome |
|
Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, Patent foramen ovale, Abnormal car... |
OMIM:615009 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Laryngomalacia, Wide nasal bridge |
OMIM:618821 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618870 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Short nose, Umbilical hernia, Ventricular septal defect |
ORPHA:2143 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Short nose, Laryngeal hypoplasia, Death in infancy, Patent ductus arteriosu... |
ORPHA:1790 |
| Trisomy 13 |
|
Abnormal lung lobation, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:3378 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect |
OMIM:608571 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Spina bifida occulta, P... |
OMIM:301030 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Long nose, Pneumothorax, Narrow nose |
OMIM:617602 |
| 3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Pro... |
ORPHA:435638 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
| Insulin-Like Growth Factor I, Resistance To |
|
Patent foramen ovale, Atrial septal defect, Wide nasal bridge, Ventricular septal defect |
OMIM:270450 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... |
OMIM:619123 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... |
ORPHA:99125 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:603387 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Bulbous nose, Transposition of the great arteries, Depressed nasal bridge |
OMIM:616789 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngomalacia, Broad ... |
ORPHA:457193 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Double outlet right ventricle,... |
OMIM:614886 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Patent foramen ovale, Left ventricular hypertrophy, Ventricular septal... |
OMIM:615474 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morphology, Umbilical hernia,... |
ORPHA:369891 |
| Codas Syndrome |
|
Short nose, Ventricular septal defect, Abnormality of the larynx, Midline defect of the nose, Ant... |
ORPHA:1458 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, Patent ductus... |
ORPHA:1880 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Large placenta, Umbilical hernia, Abnormal heart morphology |
ORPHA:254534 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Al Kaissi Syndrome |
|
Atrial septal defect, Broad nasal tip, Wide nasal bridge, Depressed nasal bridge |
OMIM:617694 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect |
OMIM:618021 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... |
ORPHA:99050 |
| Truncus Arteriosus |
|
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... |
ORPHA:3384 |
| Stevenson-Carey Syndrome |
|
Atrial septal defect, Anteverted nares, Underdeveloped nasal alae |
OMIM:611961 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614576 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse, Short nose |
OMIM:615539 |
| Acrocardiofacial Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Death in infancy, Wide nasal... |
ORPHA:2008 |
| Chromosome 18Q Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Aort... |
OMIM:601808 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Ground-glass opacification, Absent bronchoalveolar surfactant-protein C, Intraalveolar phospholip... |
OMIM:610921 |
| Beaulieu-Boycott-Innes Syndrome |
|
Long nose, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Ventricular septal defect |
ORPHA:2345 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Atrial septal defect, Pulmonary artery hypoplasia, Ventricular ... |
OMIM:616777 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect, Long nose, Prominent nasal bridge, Narrow nasal ... |
OMIM:309520 |
| Alazami Syndrome |
|
Atrial septal defect, Wide nose |
ORPHA:319671 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Short nose, Ventricular septal defect, Choanal atresia, Anteverted nares |
OMIM:610536 |
| Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Atrial septal defect, Ventricular septal defect |
OMIM:609053 |
| Methimazole Embryofetopathy |
|
Choanal atresia, Tracheoesophageal fistula, Ventricular septal defect |
ORPHA:1923 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... |
ORPHA:2257 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
| Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Choanal atresia, Patent ductus arteriosus, Wide ... |
OMIM:158170 |
| Potocki-Lupski Syndrome |
|
Patent foramen ovale, Atrial septal defect |
OMIM:610883 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypop... |
ORPHA:1335 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Recurrent bronchopulmonary infections, Wide nasal... |
OMIM:617303 |
| Noonan Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... |
OMIM:610733 |
| Noonan Syndrome 3 |
|
Atrial septal defect, Short nose, Ventricular septal defect, Patent ductus arteriosus, Pulmonic s... |
OMIM:609942 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Tetralogy... |
ORPHA:1727 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal heart morphology, Bicuspid ... |
ORPHA:457279 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Umbilical hernia, Wide nasal bridge, Prom... |
ORPHA:1292 |
| Noonan Syndrome 7 |
|
Pulmonic stenosis, Atrial septal defect, Depressed nasal bridge, Hypertrophic cardiomyopathy |
OMIM:613706 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Emanuel Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... |
ORPHA:96170 |
| Weiss-Kruszka Syndrome |
|
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... |
OMIM:618619 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus arteriosus, Pulm... |
OMIM:616564 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Spinal dysraphism, Abnormality of the pulmonary artery, Tetralogy of F... |
ORPHA:1926 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Death in ... |
OMIM:617478 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Sotos Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:117550 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Atrial septal defect, Bulbous nose, Ventricular septal defect, Patent ductus arteriosus, Wide nas... |
OMIM:220500 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Short nose, Death in infancy, Patent foramen ovale, Anteverted nares, De... |
OMIM:602613 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Pate... |
OMIM:612582 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short nose, Ventricular septal defect, Pleural effusion, Wide nasal bridge, Pulmonary hypoplasia,... |
OMIM:616897 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,... |
OMIM:600001 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
| Cooper-Jabs Syndrome |
|
Anteverted nares, Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Short nose |
ORPHA:79113 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
| Diets-Jongmans Syndrome |
|
Heterotaxy, Broad nasal tip, Umbilical hernia, Ventricular septal defect |
OMIM:618846 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Prominent nasal bridge, Wide nasal bridge, Ventricular septal defect |
OMIM:617452 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Anteverted nares, Hypertro... |
OMIM:612938 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Tracheal calcification, Atrial septal defect, Short nose, Ventricular septal defect, Patent ductu... |
ORPHA:79345 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
| Mosaic Trisomy 9 |
|
Spina bifida, Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart valve... |
ORPHA:99776 |
| Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Pulmonary fibrosis, Ventricular septal defect, Abnormal pulmonary interstit... |
ORPHA:209905 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect |
OMIM:614857 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Broad nasal tip, Ventricular septal defect |
ORPHA:3306 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Dextrocardia, Umbilical hernia, Ventricular septal defect |
OMIM:616145 |
| Buratti-Harel Syndrome |
|
Atrial septal defect, Laryngomalacia, Recurrent pneumonia |
OMIM:619314 |
| Kapur-Toriello Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Bulbous nose, Ventricular septal defect |
OMIM:244300 |
| 16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Short nose, Bulbous nose, Abnormal heart morphology, Abnormal tricuspid val... |
ORPHA:485405 |
| Pelger-Huet Anomaly |
|
Depressed nasal bridge, Umbilical hernia, Ventricular septal defect |
OMIM:169400 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Depressed nasal bridge, Ventricular septal defect |
OMIM:617895 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Carpenter Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Pulm... |
OMIM:201000 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Short nose, Wide nasal bridge, Narrow nasal bridge, Anteverted nares, Recur... |
OMIM:619383 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Abnormal lung lobation, Atrial septal defect, Bulbous nose, Short no... |
OMIM:614114 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Pn... |
ORPHA:26793 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Prominent nose, Broad nasal tip |
OMIM:618665 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Tracheobronchomalacia, Patent foramen ovale, Long nose, Prominent nasal bridge |
OMIM:619184 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Atrial septal defect, Patent ductus arteriosus, Cor triatriatum, Wide nasal bridge, Pulmonic sten... |
OMIM:612541 |
| Ellis Van Creveld Syndrome |
|
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal heart valve mor... |
ORPHA:289 |
| Filippi Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Prominent nasal bridge, ... |
ORPHA:3255 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Anteverted nares, Short nose |
ORPHA:1915 |
| 19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Anteverted nares, Narrow nasal bridge, Ventricular septal defect |
ORPHA:254346 |
| Noonan Syndrome 13 |
|
Mitral valve prolapse, Atrial septal defect, Anteverted nares, Wide nasal bridge |
OMIM:619087 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Prominent nasal bridge, Wide nose, Ventricular septal defect |
ORPHA:505237 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pleural effusion, Pericardial effusion, Umbilica... |
OMIM:235510 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Bulbous nose, Laryngotracheomalacia, Anteverted nares, Short nose, Patent ductus arteriosus, Umbi... |
OMIM:618454 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
| Thanatophoric Dysplasia Type 1 |
|
Aplasia/Hypoplasia of the lungs, Atrial septal defect, Patent ductus arteriosus, Depressed nasal ... |
ORPHA:1860 |
| Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery steno... |
ORPHA:96167 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Anteverted nares, Depressed nasal br... |
ORPHA:261236 |
| Alagille Syndrome |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Spina bifi... |
ORPHA:52 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory tract infection, Patent ductus arteriosus, Patent foramen ovale, Recurrent respirator... |
OMIM:607143 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic v... |
ORPHA:371428 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Depressed nasal bridge |
ORPHA:459061 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| Marshall-Smith Syndrome |
|
Atrial septal defect, Short nose, Choanal atresia, Patent ductus arteriosus, Umbilical hernia, La... |
OMIM:602535 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Bulbous nose, Ventricular septal defect |
ORPHA:2328 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Bulbous nose, Patent ductus arteriosus, Bifid nose, Depressed nasal bridge |
ORPHA:261279 |
| Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Atrial septal defect, Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:614749 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect |
OMIM:617159 |
| Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Underdeveloped nasal alae, Patent ductus arteriosus, Wide nasal bridge, Lar... |
ORPHA:2637 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Pat... |
OMIM:616028 |
| Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Mitral stenosis, Tricuspid valve prolapse, Patent foramen ovale, Mitral valve ... |
OMIM:212093 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Death in infancy, Tracheoesophageal fistula,... |
OMIM:300514 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Myelomeningocele, Depressed nasal bridge, Ventricular septal defect |
ORPHA:2876 |
| Chromosome 10Q26 Deletion Syndrome |
|
Prominent nose, Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge |
OMIM:609625 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Depressed nasal bridge |
ORPHA:397709 |
| Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Choanal ... |
OMIM:617063 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Umbilical hernia, Pulmonary hypopla... |
OMIM:613177 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Short nose, Recurrent upper respiratory tract infections, Ventricular septal defect |
ORPHA:3078 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Choanal atresia, Patent ductus arterios... |
OMIM:612562 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Char Syndrome |
|
Depressed nasal bridge, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Pulmonary hypoplasia, Cardiomegaly, Ventricular septal defect |
OMIM:617022 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Patent foramen ova... |
OMIM:616866 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... |
OMIM:264480 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Recurrent respiratory infections, Ventricular septal defect |
OMIM:615508 |
| Noonan Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Mit... |
OMIM:605275 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Choanal atresia, Anteverted nares, Abnormal heart morphology |
ORPHA:494344 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
| 20Q13.33 Microdeletion Syndrome |
|
Narrow nose, Abnormal cardiac ventricle morphology, Bulbous nose, Atrial septal defect |
ORPHA:261311 |
| Mosaic Trisomy 16 |
|
Atrial septal defect, Abnormal lung morphology, Ventricular septal defect, Abnormal heart morphol... |
ORPHA:1708 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect |
OMIM:613404 |
| Contractural Arachnodactyly, Congenital |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve,... |
OMIM:121050 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Bulbous nose, Choanal atresia, Patent ductus arteriosus, Wide nasal bridge,... |
OMIM:300968 |
| Distal Monosomy 10Q |
|
Atrial septal defect, Short nose, Patent ductus arteriosus, Wide nasal bridge, Spina bifida occul... |
ORPHA:96148 |
| Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Broad nasal tip, Recurrent upper respiratory trac... |
ORPHA:293939 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Wide nasal bridge, Recurrent pneumonia, Patent foramen ovale, Prominent nasal bridge |
OMIM:619179 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Ventricular septal defect |
ORPHA:79243 |
| Donnai-Barrow Syndrome |
|
Short nose, Ventricular septal defect, Umbilical hernia, Broad nasal tip, Depressed nasal bridge |
OMIM:222448 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Ventricular septal defect, Double outlet left ... |
ORPHA:2255 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Bulbous nose, Ventricular septal defect, Patent ductus arteriosus, Pulmonic... |
OMIM:610759 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Abnormal heart morpho... |
ORPHA:453499 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Underdeveloped nasal alae, Abnormalit... |
ORPHA:436003 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
| Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology |
ORPHA:261197 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Pulmonary hypoplasia, Prominent nasal bridge, Wide nose, Prominent nose |
ORPHA:85201 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Misalignment of the pulmonary veins, Patent ductus arteriosus, Alveolar capillary dysplasia, Pulm... |
OMIM:265380 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
| Heart And Brain Malformation Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Ventricular septal defect |
OMIM:616920 |
| Radio-Tartaglia Syndrome |
|
Bulbous nose, Anteverted nares, Ventricular septal defect, Wide nasal bridge, Prominent nasal bri... |
OMIM:619312 |
| Atrioventricular Septal Defect 3 |
|
Atrioventricular canal defect, Inlet ventricular septal defect, Primum atrial septal defect |
OMIM:600309 |
| 19P13.3 Microduplication Syndrome |
|
Prominent nose, Underdeveloped nasal alae, Ventricular septal defect |
ORPHA:447980 |
| Spondyloocular Syndrome |
|
Mitral valve prolapse, Atrial septal defect |
OMIM:605822 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology, Wide nasal bridge, Anteverted nares, Abnorm... |
ORPHA:404440 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... |
OMIM:618223 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
| Stankiewicz-Isidor Syndrome |
|
Prominent nose, Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Hardikar Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:612726 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Pulmonic stenosis, Umbilical hernia |
OMIM:618914 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
| Koolen-De Vries Syndrome |
|
Pear-shaped nose, Atrial septal defect, Bulbous nose, Ventricular septal defect, Patent ductus ar... |
OMIM:610443 |
| Ogden Syndrome |
|
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Pu... |
OMIM:300855 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia |
ORPHA:404443 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
| Costello Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Hypertrophic cardiomyopathy,... |
ORPHA:3071 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Bulbous nose, Abnormal heart valve morphology, Left ventricular hypertrophy... |
ORPHA:230851 |
| Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, Broad nasal tip |
OMIM:300867 |
| Bohring-Opitz Syndrome |
|
Atrial septal defect, Wide nasal bridge, Ventricular septal defect |
OMIM:605039 |
| Zellweger Syndrome |
|
Depressed nasal bridge, Death in infancy, Wide nasal bridge, Ventricular septal defect |
ORPHA:912 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Death in childhood,... |
OMIM:600460 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Short nose, Ventricular septal defect |
OMIM:234050 |
| Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:147770 |
| Distal Tetrasomy 15Q |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Abnormal heart morphology |
ORPHA:314588 |
| Fibrochondrogenesis 1 |
|
Short nose, Stillbirth, Patent foramen ovale, Anteverted nares, Depressed nasal bridge |
OMIM:228520 |
| Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Short nose, Patent ductus arteriosus, Depressed nasal bridge, Prominent nose |
ORPHA:363528 |
| Thakker-Donnai Syndrome |
|
Bulbous nose, Ventricular septal defect, Tetralogy of Fallot, Anteverted nares, Tracheoesophageal... |
ORPHA:1780 |
| Distal Trisomy 5Q |
|
Dextrocardia, Prominent nasal bridge, Short nose, Ventricular septal defect |
ORPHA:96097 |
| Coffin-Siris Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal heart morphology, Recurrent... |
ORPHA:1465 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic frontal sinuses, Choanal atresia, Pa... |
OMIM:300712 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Laryngeal stridor, Laryngomalacia, A... |
OMIM:244450 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Tracheoesophageal fistula, Ventricular septal defect |
ORPHA:77298 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Depressed nasal bridge, Bulbous nose, Dysplastic pulmonary valve |
OMIM:619103 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Aspiration pneumo... |
ORPHA:354 |
| Ogden Syndrome |
|
Pulmonary artery stenosis, Underdeveloped nasal alae, Ventricular septal defect |
ORPHA:276432 |
| Trisomy 1Q |
|
Depressed nasal bridge, Patent ductus arteriosus, Wide nose, Ventricular septal defect |
ORPHA:261344 |
| Fg Syndrome Type 1 |
|
Atrial septal defect, Choanal atresia, Umbilical hernia, Mitral valve prolapse, Prominent nose |
ORPHA:93932 |
| 19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Underdeveloped nasal alae, Ventricular septal defect |
ORPHA:217346 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Pulmonary lymphangiectasia, Wide nasal bridge, Ventricular septal defect |
OMIM:235255 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Peripheral pulmonary ... |
OMIM:617506 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Atrial septal defect, Bulbous nose, Wide nasal bridge, Hypertrophic cardiomyopathy |
OMIM:617403 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Broad nasal tip, Prominent nasal bridge, Common atrium, Prominent nose |
ORPHA:96168 |
| Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Ventricular septal defect |
OMIM:617164 |
| Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:153400 |
| Mckusick-Kaufman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart... |
ORPHA:2473 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Choanal atresia, Depressed nasal bridge |
OMIM:207410 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Wide nasal bridge, Double outlet right vent... |
ORPHA:2209 |
| Gastrointestinal Defects And Immunodeficiency Syndrome |
|
Ventricular septal defect |
OMIM:243150 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
Atrial septal defect |
OMIM:619326 |
| Codas Syndrome |
|
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect, Anteverted nares,... |
OMIM:600373 |
| Opitz Gbbb Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... |
ORPHA:2745 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Patent ductus arteriosus, Concentric hypertrophic cardiomyopathy, Death i... |
OMIM:610505 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Short nose, Patent ductus arteriosus, Pulmonary hypoplasia, Anteverted nare... |
OMIM:614080 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Short nose, Ventricular septal defect, Umbilical hernia, Perimembranous ventricular septal defect... |
OMIM:301040 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Long nose, Atrial septal defect, Underdeveloped nasal alae, Depressed nasal bridge |
ORPHA:457351 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect |
ORPHA:2728 |
| Opitz Gbbb Syndrome, Type Ii |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngeal cleft, Umbil... |
OMIM:145410 |
| Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Common atrium |
OMIM:619143 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Car... |
OMIM:602782 |
| Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cardiomyopathy, Prominent nasal bridge, Antevert... |
ORPHA:769 |
| 8P11.2 Deletion Syndrome |
|
Mitral valve prolapse, Atrial septal defect, Patent ductus arteriosus, Depressed nasal bridge |
ORPHA:251066 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
| Syndromic Diarrhea |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Peripheral pulmonary ... |
ORPHA:84064 |
| Distal Monosomy 6P |
|
Atrial septal defect, Underdeveloped nasal alae, Anteverted nares, Wide nose, Depressed nasal bridge |
ORPHA:96125 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Hypoplastic left heart, Patent ductus arteriosus, Ventricular sept... |
OMIM:142900 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Atrial septal defect, Short nose, Abnormal heart morphology, Patent ductus arteriosus, Patent for... |
ORPHA:505248 |
| Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tracheomalacia, Spina bifida occulta, Tracheal s... |
OMIM:150250 |
| Hamamy Syndrome |
|
Atrial septal defect, Anteverted nares, Wide nasal bridge |
OMIM:611174 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Death in infancy |
OMIM:609069 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:208540 |
| Diamond-Blackfan Anemia 10 |
|
Choanal atresia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
| Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
| C Syndrome |
|
Short nose, Ventricular septal defect, Patent ductus arteriosus, Wide nasal bridge, Anteverted nares |
OMIM:211750 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Ventricular septal defect, Death in infancy, Tracheomalacia, Meningocele, Myelomeni... |
ORPHA:1393 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Pulmonic stenosis, Double outlet right ventricle, Ventricular septal de... |
OMIM:301056 |
| Duane-Radial Ray Syndrome |
|
Atrial septal defect, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia... |
OMIM:607323 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... |
OMIM:253800 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, B... |
ORPHA:261330 |
| Jacobsen Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Anteverted nares, Recurrent respirat... |
OMIM:147791 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short nose, Ventricular septal defect, Patent ductus arteriosus, Pulmona... |
OMIM:616894 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy, Patent ductus arteri... |
ORPHA:369837 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent aspiration pneumonia, Atrial septal defect, Recurrent infections due to aspiration |
ORPHA:70 |
| Alzahrani-Kuwahara Syndrome |
|
Atrial septal defect, Bulbous nose, Ventricular septal defect, Pulmonary artery sling, Coronary s... |
OMIM:619268 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Congenital Tracheal Stenosis |
|
Abnormal lung lobation, Abnormal lung morphology, Anomalous origin of left pulmonary artery from ... |
ORPHA:141127 |
| Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
| Pallister-Hall Syndrome |
|
Abnormal lung lobation, Bifid epiglottis, Short nose, Ventricular septal defect, Choanal atresia,... |
OMIM:146510 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... |
OMIM:245600 |
| Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Umbilical hernia, Tricuspid valve prolapse, Ventricular septal defect |
ORPHA:96129 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Pulmonary hypoplasia, Depressed nasal bridge |
OMIM:616546 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
| Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
| Kleefstra Syndrome |
|
Short nose, Ventricular septal defect, Tracheomalacia, Pulmonary artery stenosis, Bicuspid aortic... |
ORPHA:261494 |
| Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tracheomalacia, Wide n... |
OMIM:300373 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida, Atrial septal defect, Ventricular septal defect, Death in infancy, Tetralogy of Fal... |
OMIM:274000 |
| Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Bulbous nose, Short nose, Pulmonic stenosis, Anteverted nares, Hypertrophic... |
OMIM:115150 |
| Loeys-Dietz Syndrome 5 |
|
Patent foramen ovale, Atrial septal defect, Prominent nasal bridge, Ventricular septal defect |
OMIM:615582 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Patent ductus arteriosus, Pneumonia |
OMIM:603467 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Atrial septal defect, Anteverted nares, Ventricular septal defect |
ORPHA:464738 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
