Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Death in childhood |
OMIM:253300 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Ventricular septal defect |
OMIM:614876 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood |
OMIM:613759 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular... |
OMIM:616276 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... |
OMIM:619371 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect |
OMIM:619717 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Lambert Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1296 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... |
OMIM:615996 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... |
ORPHA:1913 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:619189 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Grange Syndrome |
|
Ventricular septal defect |
ORPHA:79094 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect |
OMIM:147800 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Meacham Syndrome |
|
Death in infancy, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... |
OMIM:608978 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:245552 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis |
OMIM:249270 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hypoplastic rig... |
OMIM:618142 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... |
OMIM:179613 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:614815 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1166 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:290 |
Tyshchenko Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615355 |
3C Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid... |
ORPHA:7 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1923 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect |
OMIM:616651 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Death in... |
OMIM:612938 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:619909 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:617635 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:75389 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... |
OMIM:618316 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:500159 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect |
ORPHA:452 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:613870 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect |
OMIM:126320 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... |
ORPHA:210122 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:615668 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Intrauterine growth retardation |
OMIM:614576 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept... |
ORPHA:392 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic left atrium, Pulmonic stenosis, Neon... |
OMIM:601186 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:611134 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:79243 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
ORPHA:329224 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ve... |
OMIM:208085 |
Warsaw Breakage Syndrome |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
OMIM:618494 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... |
OMIM:617478 |
Verheij Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617452 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Transaldolase Deficiency |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... |
OMIM:606003 |
Acrocardiofacial Syndrome |
|
Death in infancy, Mitral stenosis, Ventricular septal defect, Atrial septal defect, Intrauterine ... |
ORPHA:2008 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Intrauter... |
OMIM:609029 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... |
ORPHA:477817 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... |
OMIM:609053 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... |
OMIM:616897 |
Rere-Related Neurodevelopmental Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Intrauterine growth retardation, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:505237 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial... |
OMIM:619343 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
19P13.3 Microduplication Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:447980 |
Trisomy 13 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:3378 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... |
ORPHA:185 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal ... |
ORPHA:1908 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... |
OMIM:619657 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
ORPHA:3426 |
Prune Belly Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2970 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Heterotaxy, Visceral, 1, X-Linked |
|
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... |
OMIM:306955 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... |
OMIM:270450 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Intrauter... |
ORPHA:96170 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:3255 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale |
OMIM:612582 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Intrauterine growth retardation, Ventricular septal defect, Death in childhood |
OMIM:243150 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618870 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Intrauterine growth retardation |
OMIM:300514 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular ... |
OMIM:612562 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect |
OMIM:218350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:254346 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:488618 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1926 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:603387 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Intrauterine growth retardation, Double outlet right ventricle, Ventricular septal defect, Pulmon... |
OMIM:301056 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... |
ORPHA:3097 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno... |
OMIM:270100 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Phaver Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:2876 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Atrial septal defect, Intrauterine gro... |
OMIM:601808 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
Keutel Syndrome |
|
Ventricular septal defect |
ORPHA:85202 |
Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... |
OMIM:600001 |
Seckel Syndrome 9 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:616777 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Short Stature-Micrognathia Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:617164 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617360 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... |
ORPHA:371428 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617061 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Severe intrauterine growth retardation, Subvalvular aortic stenosis, A... |
OMIM:614114 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
19Q13.11 Microdeletion Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:217346 |
Lethal Congenital Contracture Syndrome 10 |
|
Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:244300 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Atrial septal ... |
OMIM:201000 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:608149 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect, Miscarriage |
ORPHA:2438 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth... |
ORPHA:2209 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect |
OMIM:613680 |
Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of... |
ORPHA:1780 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol... |
OMIM:614294 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale |
OMIM:620113 |
Contractural Arachnodactyly, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:121050 |
Char Syndrome |
|
Ventricular septal defect |
ORPHA:46627 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... |
OMIM:616564 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:166035 |
Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... |
OMIM:264480 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Endocardial fibroelasto... |
ORPHA:99776 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
Zellweger Syndrome |
|
Death in infancy, Ventricular septal defect |
ORPHA:912 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
Cat Eye Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo... |
OMIM:115470 |
Alagille Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:52 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Atrial septal defect, Ventricular septal defect, Coronary artery fistula |
OMIM:620024 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:2519 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617602 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:300998 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect |
OMIM:117550 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... |
OMIM:605275 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:158170 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Death in adolescence |
OMIM:619229 |
Gm1 Gangliosidosis |
|
Cardiomyopathy, Ventricular septal defect, Abnormal heart morphology |
ORPHA:354 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect |
OMIM:616920 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:605039 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Intrau... |
OMIM:610443 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho... |
ORPHA:1335 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... |
ORPHA:453499 |
Ogden Syndrome |
|
Ventricular septal defect |
ORPHA:276432 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Ventricular septal defect |
OMIM:235255 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:611812 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Trisomy 1Q |
|
Ventricular septal defect |
ORPHA:261344 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale |
OMIM:269860 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect |
ORPHA:52055 |
Joubert Syndrome 14 |
|
Ventricular septal defect |
OMIM:614424 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Ventricular septal defect, Death in adolescence, Atrial septal defect, Intraute... |
OMIM:614866 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... |
OMIM:609942 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:1393 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect |
OMIM:612530 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, P... |
OMIM:265380 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect |
ORPHA:77298 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect |
OMIM:219730 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect |
OMIM:106260 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300963 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:610759 |
Cohen Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Pericardial effusion, Pericardial lymphangiectasia, Ventricular septal defect |
OMIM:235510 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect, Death in childhood |
OMIM:600460 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... |
ORPHA:209905 |
Kleefstra Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve |
ORPHA:261494 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve... |
OMIM:190685 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:96167 |
Leigh Syndrome |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Death in childhood |
OMIM:214100 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
OMIM:222448 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect |
OMIM:300472 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:130720 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart |
OMIM:142900 |
Chops Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return |
OMIM:616368 |
Pallister-Hall Syndrome |
|
Neonatal death, Intrauterine growth retardation, Ventricular septal defect |
OMIM:146510 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... |
ORPHA:84064 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Cardiomyopathy |
ORPHA:769 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect |
ORPHA:261330 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... |
ORPHA:99050 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect |
OMIM:606232 |
C Syndrome |
|
Ventricular septal defect |
OMIM:211750 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:277600 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:79345 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Pulmonic stenosis, Atrial septal defect, Intrauterine ... |
OMIM:614609 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:614653 |
Mosaic Trisomy 16 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Abnormal heart ... |
ORPHA:1708 |
Loeys-Dietz Syndrome 5 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:615582 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Pulmonary valve atresia, Ventricular septa... |
OMIM:301030 |
Mckusick-Kaufman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart |
ORPHA:2473 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pulmonic stenosis |
OMIM:617506 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:464738 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricus... |
ORPHA:1507 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:300712 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Alg9-Cdg |
|
Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil... |
ORPHA:79328 |
Trisomy 18 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:3380 |
Trichothiodystrophy |
|
Intrauterine growth retardation, Ventricular septal defect, Cardiomyopathy |
ORPHA:33364 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
De Barsy Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:2962 |
Trichohepatoenteric Syndrome 1 |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:222470 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... |
OMIM:602782 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular ... |
ORPHA:508498 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... |
ORPHA:1724 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri... |
OMIM:100300 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Mosaic Trisomy 1 |
|
Ventricular septal defect |
ORPHA:1692 |
Jacobsen Syndrome |
|
Death in infancy, Ventricular septal defect, Hypoplastic left heart, Intrauterine growth retardat... |
ORPHA:2308 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:607323 |
Mgat2-Cdg |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:79329 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... |
ORPHA:163956 |
Marshall-Smith Syndrome |
|
Atrial septal defect, Dysplastic aortic valve, Ventricular septal defect, Death in childhood |
OMIM:602535 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:227645 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
Jacobsen Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:147791 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal anatomic location of th... |
ORPHA:2461 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Intrauterine growth r... |
ORPHA:1465 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Patent foramen ovale, Ventricular septal defect, Hypoplastic right heart |
OMIM:616894 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect |
ORPHA:1655 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect |
OMIM:613309 |
7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect |
ORPHA:96121 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:2745 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
Oculodentodigital Dysplasia |
|
Ventricular septal defect |
ORPHA:2710 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Intrauterine growth retardation, Aortic valve stenosis, Ventricular septal defect |
ORPHA:464311 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:618454 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:2092 |
Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Ventricular septal defect, Muscular ventricular septal defect, Stillbirth, Deat... |
OMIM:210710 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect,... |
OMIM:274000 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect |
OMIM:618268 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Larsen Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:150250 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Intrauterine growth retardation, Aortic valve stenosis, Ventricular septal defect |
ORPHA:464306 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect |
OMIM:617063 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
Cornelia De Lange Syndrome 1 |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:122470 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Stillbirth, Transposition of the great arteries, Neonatal death, Intra... |
OMIM:256520 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect |
OMIM:609460 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Doub... |
OMIM:280000 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... |
ORPHA:97360 |
Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale |
OMIM:616975 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Atrial septal defect, Intrauterine growth retard... |
OMIM:139210 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... |
OMIM:301043 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:453504 |
Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:608328 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:352665 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic valve morphology,... |
ORPHA:567 |
Holoprosencephaly |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology |
ORPHA:2162 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Fryns Syndrome |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:229850 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Pulmonic stenosis, Atrial septal defect... |
OMIM:616268 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
ORPHA:3138 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363958 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300373 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... |
ORPHA:99125 |
Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Atrioventricular canal defect, Ventricular... |
ORPHA:818 |
Phace Association |
|
Ventricular septal defect |
OMIM:606519 |
3Mc Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:257920 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:436252 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect |
ORPHA:268249 |
Hydrolethalus Syndrome 1 |
|
Intrauterine growth retardation, Complete atrioventricular canal defect, Stillbirth, Ventricular ... |
OMIM:236680 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal heart morphology, Intrau... |
ORPHA:268261 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v... |
ORPHA:466791 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr... |
OMIM:309500 |
Simpson-Golabi-Behmel Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Cardiomyopathy |
ORPHA:373 |
Catel-Manzke Syndrome |
|
Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Dextrocardia |
OMIM:616145 |
Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Tricuspid stenosis |
OMIM:105650 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis |
ORPHA:955 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:163979 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardatio... |
OMIM:270400 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:619575 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Intrauterine growth retardation, Partial anomalous pulmonary venous return,... |
OMIM:301044 |
Degcags Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Intrauterine growth retardati... |
OMIM:619488 |
8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Abnormal heart morphology, Int... |
ORPHA:508488 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... |
OMIM:157800 |
Zttk Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617140 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricular septal defect, Hypop... |
OMIM:180849 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve |
OMIM:271640 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect |
OMIM:123700 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial... |
OMIM:619534 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventricular septal defect |
OMIM:619418 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve |
OMIM:619475 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Hy... |
ORPHA:96334 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
Alzahrani-Kuwahara Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement |
OMIM:619268 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1199 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis |
OMIM:164280 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:444077 |
Keutel Syndrome |
|
Ventricular septal defect, Miscarriage, Pulmonic stenosis |
OMIM:245150 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu... |
OMIM:300166 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse |
ORPHA:500095 |
Acrofacial Dysostosis 1, Nager Type |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert... |
OMIM:218040 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:353281 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect |
OMIM:206900 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect |
OMIM:102500 |
Hardikar Syndrome |
|
Atrial septal defect, Ventricular septal defect, Partial anomalous pulmonary venous return, Paten... |
OMIM:301068 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
ORPHA:3047 |
Diamond-Blackfan Anemia |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology |
ORPHA:124 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:353277 |
Limb Body Wall Complex |
|
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology |
ORPHA:2369 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:261337 |
Alagille Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:118450 |
Williams Syndrome |
|
Abnormal endocardium morphology, Death in early adulthood, Overriding aorta, Bicuspid aortic valv... |
ORPHA:904 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Aortopulmonary window, Abnormal heart morphology, Bacterial endocardit... |
ORPHA:97214 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... |
OMIM:607872 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect |
ORPHA:459070 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:438213 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:117650 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Hypoplastic left h... |
OMIM:619503 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Ventricular septal defect, Aortopulmonary window |
OMIM:620025 |
Omodysplasia 1 |
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Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
Vater/Vacterl Association |
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Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of... |
OMIM:192350 |
Coffin-Siris Syndrome 1 |
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Atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal de... |
OMIM:135900 |
Noonan Syndrome 1 |
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Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:163950 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect |
OMIM:618846 |
Femoral-Facial Syndrome |
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Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Wolf-Hirschhorn Syndrome |
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Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:194190 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ... |
OMIM:194050 |
Congenital Tracheal Stenosis |
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Ventricular septal defect, Hypoplastic left heart |
ORPHA:141127 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Cornelia De Lange Syndrome |
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Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:199 |
Charge Syndrome |
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Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ... |
OMIM:214800 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Ventricular septal defect, Cardiomyopathy, Total anomalous pulmonary venous return, Transposition... |
OMIM:312870 |
Viss Syndrome |
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Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse, Right ventricular d... |
OMIM:619472 |
Johanson-Blizzard Syndrome |
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Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Severe intrauterine gr... |
OMIM:243800 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect |
ORPHA:513456 |
Pallister-Hall Syndrome |
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Atrial septal defect, Intrauterine growth retardation, Atrioventricular canal defect, Ventricular... |
ORPHA:672 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:619522 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect |
OMIM:616682 |
Roberts-Sc Phocomelia Syndrome |
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Atrial septal defect, Stillbirth, Ventricular septal defect, Severe intrauterine growth retardation |
OMIM:268300 |
Peters-Plus Syndrome |
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Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis |
OMIM:261540 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615948 |
Mowat-Wilson Syndrome |
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Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Abnormal heart morphology |
OMIM:235730 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
Proboscis Lateralis |
|
Ventricular septal defect |
ORPHA:141099 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:147920 |
Digeorge Syndrome |
|
Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:188400 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:620330 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect |
ORPHA:434179 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
OMIM:181450 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:606170 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h... |
ORPHA:261552 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomyopathy, Intrauterine growth retardation, Tetralogy of Fallot, ... |
OMIM:216340 |
Sotos Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology |
ORPHA:821 |
Pallister-Killian Syndrome |
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Ventricular septal defect, Stillbirth, Aortic valve stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:601803 |
Craniofacial Microsomia 1 |
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Tetralogy of Fallot, Ventricular septal defect |
OMIM:164210 |