Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Right aortic arch, Transposition of the gr... |
OMIM:231060 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Atrial... |
ORPHA:1913 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Isomer... |
OMIM:314390 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... |
OMIM:619657 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Diabetic Embryopathy |
|
Ventricular septal defect, Micrognathia, Abnormality of the pancreas, Cleft palate, Abnormal aort... |
ORPHA:1926 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Pierre Robin Syndrome |
|
Glossoptosis, Cor pulmonale, Cleft palate, Micrognathia |
OMIM:261800 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... |
OMIM:270100 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t... |
ORPHA:1727 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle, Cleft palat... |
OMIM:220210 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Micrognathia, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial ... |
ORPHA:3304 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Anterior open-bite malocclusion, Perimembranous ventricular septal d... |
OMIM:617877 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:179613 |
8P23.1 Microdeletion Syndrome |
|
Micrognathia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, A... |
ORPHA:251071 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Malar fla... |
ORPHA:1919 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... |
OMIM:600001 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotat... |
OMIM:618316 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... |
OMIM:201000 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Ververi-Brady Syndrome |
|
High palate, Transposition of the great arteries |
OMIM:617982 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries... |
OMIM:313850 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Cat-Eye Syndrome (Type I) |
|
Micrognathia, Anal atresia, Abnormal heart morphology |
DECIPHER:42 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Prominence of the premaxilla, Patent ductus arteriosus, Atrial sep... |
OMIM:614886 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal heart morphology, Coarctati... |
ORPHA:2209 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect, Micrognathia |
OMIM:243440 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Micrognathia, Cleft palate, Abnormal aortic morphology, Tetralogy of F... |
ORPHA:1166 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte... |
OMIM:612561 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Renpenning Syndrome |
|
Mandibular prognathia, High, narrow palate, Cleft palate, Heterotaxy, Malar flattening, Anal atresia |
ORPHA:3242 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Short middle phalanx of the 5th finger, Protrud... |
OMIM:190685 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Tetralogy of Fallot |
ORPHA:276422 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Megarectum, Pulmonic sten... |
OMIM:301056 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... |
ORPHA:2326 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... |
OMIM:611878 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Abnormality of the ... |
ORPHA:1667 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Micrognathia, High, narrow palate, Abnormal lung lobation, Cleft palat... |
ORPHA:2516 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... |
OMIM:616652 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... |
ORPHA:1666 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Tetralogy of Fallot, Cleft pal... |
ORPHA:3474 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... |
OMIM:612946 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... |
OMIM:217085 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus |
OMIM:618624 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... |
OMIM:619343 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cleft hard palate, C... |
OMIM:301043 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Micrognath... |
OMIM:115470 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia |
OMIM:612776 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartat... |
OMIM:280000 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Atrioventricular canal defect,... |
OMIM:619142 |
Autosomal Recessive Amelia |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Amelia involvi... |
ORPHA:1027 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Abdominal situs a... |
OMIM:617092 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial septal defect... |
OMIM:241310 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... |
ORPHA:2001 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... |
ORPHA:1908 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Alagille Syndrome 2 |
|
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:610205 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... |
OMIM:616276 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Gastroint... |
ORPHA:397 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Chronic sinusitis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Cleft pa... |
OMIM:618021 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Micrognathia, Patent ductus arter... |
ORPHA:1662 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Vater/Vacterl Association |
|
Ventricular septal defect, Absent radius, Short thumb, Patent ductus arteriosus, Hypoplasia of th... |
OMIM:192350 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Tetralogy of Fallot, Retrognathia |
OMIM:617926 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... |
ORPHA:2970 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Abnormal lung lobation, Short palm, Hepatoblastoma, Atrial septal defect, ... |
OMIM:312870 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Recu... |
ORPHA:2331 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... |
ORPHA:2306 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
German Syndrome |
|
Micrognathia, Abnormal cardiac septum morphology, High palate, Dysphagia, Tetralogy of Fallot |
ORPHA:2077 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Absent gallbladder, Hamartoma of tongue, Micrognathia, Esophageal diverticulum, Comp... |
OMIM:617925 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Micrognathia, Double outlet right ventricle with doubly co... |
ORPHA:1596 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Carious teeth, Patent ductus arteriosus, High, narrow palat... |
OMIM:614976 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... |
ORPHA:163956 |
Thoraco-Abdominal Enteric Duplication |
|
Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Muscular ventricular septal defect, P... |
OMIM:612474 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorption, Patent ductus arte... |
ORPHA:452 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Micrognathia, Secundum atrial septal defect, Dental malocclusion, Mitr... |
OMIM:249420 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Patent ductus arteriosus,... |
OMIM:601186 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Narrow palate, Cleft palate, Pulmonic stenosis, Atrial septal defect, D... |
OMIM:618223 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... |
OMIM:618846 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
3C Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... |
ORPHA:7 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Micromelia, Micrognathia, Patent ductus arteriosus, Cleft palate, Tran... |
OMIM:256520 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Micrognathia, Ascending aorta hypoplasia, High palate, Hepatic steatosis, ... |
OMIM:619503 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulm... |
OMIM:202650 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa... |
OMIM:619472 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect... |
OMIM:264480 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Cleft palate, Abdominal situs inversus, Pulmon... |
OMIM:619123 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Apl... |
ORPHA:1335 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Persistence of primary teet... |
OMIM:610253 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... |
ORPHA:90308 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... |
ORPHA:974 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... |
ORPHA:95430 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... |
ORPHA:99094 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... |
ORPHA:3320 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Intestinal malrotation, Absent thumb, Short thumb, Patent du... |
OMIM:147750 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect, Partial absence ... |
ORPHA:476126 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
ORPHA:284979 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Retrognathi... |
OMIM:192430 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Micrognathia, Abnormal aortic arch morphology, Cle... |
ORPHA:2059 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... |
OMIM:617159 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... |
OMIM:300166 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ar... |
OMIM:214800 |
Warsaw Breakage Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Bacterial endocarditis |
ORPHA:95459 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus arteriosus, ... |
OMIM:612562 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Cleft palate, Varicose veins, ... |
OMIM:153400 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventri... |
OMIM:617063 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, ... |
ORPHA:84064 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... |
OMIM:615355 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Hamamy Syndrome |
|
Micrognathia, Complete atrioventricular canal defect, Dental malocclusion, High palate, Atrial se... |
OMIM:611174 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Supernumerary tooth, Bifid tongue,... |
ORPHA:2919 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... |
ORPHA:2473 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... |
OMIM:600460 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... |
OMIM:174300 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, Arterial tortuos... |
OMIM:609192 |
Marfan Syndrome |
|
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... |
OMIM:154700 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... |
ORPHA:466791 |
Geleophysic Dysplasia 2 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral valve prolapse |
OMIM:614185 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... |
ORPHA:1199 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:261337 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
8Q24.3 Microdeletion Syndrome |
|
Micromelia, Abnormal lung lobation, Gastroesophageal reflux, Atrioventricular canal defect, Dyspl... |
ORPHA:508488 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septu... |
ORPHA:96147 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse |
ORPHA:1101 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas... |
ORPHA:51636 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:290 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... |
OMIM:618494 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Turnpenny-Fry Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... |
OMIM:618371 |
Doors Syndrome |
|
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Cleft palate, Narrow palate... |
ORPHA:79500 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... |
ORPHA:2556 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Missing ribs, Complete atrioventricular canal defect, Cleft palate, Mitral... |
OMIM:151100 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:617751 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... |
OMIM:616564 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:601776 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypoplasia of the ulna, Ventricular septal defect, Hepatocellular ... |
OMIM:118450 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Classical Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... |
ORPHA:287 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:606003 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Micrognathia, Pyloric stenosis, Patent ductus arteriosus, Abnor... |
OMIM:618458 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi... |
ORPHA:3186 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, High palate, Atrial septal d... |
OMIM:619869 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect |
OMIM:616651 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... |
OMIM:612582 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
OMIM:609029 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:164280 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618870 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Micrognathia, Complete atrioventricular canal defect... |
OMIM:236680 |
Gabriele-De Vries Syndrome |
|
Ebstein anomaly of the tricuspid valve, Patent foramen ovale |
ORPHA:506358 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... |
OMIM:618775 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... |
ORPHA:192 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:608149 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect |
ORPHA:79243 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Hypopl... |
OMIM:100300 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Trisomy 13 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:3378 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
ORPHA:96170 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:612938 |
Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology |
ORPHA:199276 |
Geleophysic Dysplasia 1 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... |
OMIM:601808 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614576 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:208085 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arter... |
OMIM:300963 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:609053 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:447980 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... |
ORPHA:96167 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect |
OMIM:616777 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor... |
ORPHA:1507 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta |
OMIM:105650 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta |
OMIM:300514 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:254346 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100078 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... |
ORPHA:261494 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
Sotos Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Muscular ventricular s... |
OMIM:117550 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Cardiomyopathy, C... |
ORPHA:354 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
Trisomy 1Q |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261344 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Patent ductus arteriosu... |
ORPHA:99776 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... |
OMIM:300998 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:614114 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Aortic aneurysm |
OMIM:130720 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Ventricular septal defect |
OMIM:614424 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... |
ORPHA:580 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Chops Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Anomalous pulmonary ve... |
OMIM:616368 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia, Thyroid lymph... |
OMIM:235255 |
Alagille Syndrome |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis |
ORPHA:52 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol... |
ORPHA:1708 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis |
OMIM:277600 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Cardiomegaly |
OMIM:614921 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... |
ORPHA:217085 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... |
ORPHA:453499 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... |
ORPHA:217093 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect |
OMIM:612530 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79345 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect |
OMIM:620024 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... |
ORPHA:97360 |
C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis |
ORPHA:100079 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
De Barsy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... |
ORPHA:2962 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morphol... |
ORPHA:2745 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa... |
ORPHA:567 |
Zellweger Syndrome |
|
Ventricular septal defect |
ORPHA:912 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim... |
ORPHA:508498 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... |
ORPHA:209905 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:141127 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta |
ORPHA:1692 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:605039 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
OMIM:222448 |
Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery at... |
OMIM:616894 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia |
ORPHA:1655 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:613457 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm |
ORPHA:261330 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect, Left superior vena cava draining to coronary sinus |
ORPHA:464738 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:79329 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Coarctation of aorta |
OMIM:618454 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect |
OMIM:243150 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vascular dilatation |
OMIM:607323 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... |
OMIM:608328 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect |
OMIM:619229 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:214100 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Alg9-Cdg |
|
Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil... |
ORPHA:79328 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... |
ORPHA:163979 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:1465 |
Trichohepatoenteric Syndrome 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:222470 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... |
ORPHA:96121 |
Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
Focal Dermal Hypoplasia |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:2092 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:269860 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
Holoprosencephaly |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aor... |
ORPHA:2162 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:274000 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
3Mc Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:257920 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol... |
ORPHA:500095 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:769 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the aorta |
OMIM:146510 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614866 |
Marshall-Smith Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Dysplastic aortic valve |
OMIM:602535 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Vascular ring, Coarcta... |
OMIM:180849 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis |
ORPHA:464311 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Oculodentodigital Dysplasia |
|
Ventricular septal defect |
ORPHA:2710 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:453504 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:352665 |
Trichothiodystrophy |
|
Cardiomyopathy, Ventricular septal defect |
ORPHA:33364 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect |
OMIM:609460 |
Trisomy 18 |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3380 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363958 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300373 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis |
ORPHA:955 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
ORPHA:3138 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis |
ORPHA:464306 |
Renpenning Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
OMIM:309500 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... |
ORPHA:97214 |
Hardikar Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous... |
OMIM:301068 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta |
OMIM:616145 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... |
ORPHA:353281 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:147791 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect |
OMIM:227645 |
Jacobsen Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
ORPHA:2308 |
Histiocytoid Cardiomyopathy |
|
Stroke-like episode, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect, Patent ductus art... |
ORPHA:3047 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616975 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... |
ORPHA:124 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert... |
OMIM:218040 |
Williams Syndrome |
|
Abnormal endocardium morphology, Aortic arch aneurysm, Overriding aorta, Bicuspid aortic valve, V... |
ORPHA:904 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... |
OMIM:616268 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... |
ORPHA:444077 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul... |
OMIM:245150 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect |
OMIM:122470 |
Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect, Patent ductus art... |
ORPHA:818 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve... |
OMIM:619534 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect |
ORPHA:1393 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve |
OMIM:271640 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:102500 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... |
OMIM:163950 |
Degcags Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic... |
OMIM:619488 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h... |
ORPHA:268261 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventricular septal defect |
OMIM:619418 |
Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... |
ORPHA:353277 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Atrial septa... |
OMIM:210710 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:117650 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Ventricula... |
ORPHA:459070 |
Zttk Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617140 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Dilatation of the cerebral artery, Bicuspid aortic valve, Aortic aneurysm |
OMIM:619475 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro... |
OMIM:194050 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def... |
ORPHA:3472 |
Limb Body Wall Complex |
|
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology |
ORPHA:2369 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:270400 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect |
ORPHA:436252 |
Fryns Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:229850 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Simpson-Golabi-Behmel Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:373 |
Digeorge Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,... |
OMIM:188400 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... |
OMIM:235730 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Atrial sep... |
ORPHA:96334 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Patent ductus arteriosus, Dilat... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
Coffin-Siris Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:135900 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:147920 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
ORPHA:672 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:194190 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Peters-Plus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:261540 |
Cornelia De Lange Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:199 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... |
ORPHA:261552 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
OMIM:181450 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Atrial septal defect, ... |
OMIM:243800 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:620330 |
Sotos Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:821 |
Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:606170 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet... |
OMIM:164210 |
Roberts-Sc Phocomelia Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:268300 |
Yunis-Varon Syndrome |
|
Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale |
OMIM:216340 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Aortic valve stenosis,... |
OMIM:601803 |