| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
| Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... |
ORPHA:1208 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... |
ORPHA:422 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration |
ORPHA:79159 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale |
OMIM:247610 |
| Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... |
OMIM:619433 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
| Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
| Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
| Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
ORPHA:2871 |
| Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Cryptorchidism, Aortopulmonary win... |
OMIM:620025 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... |
OMIM:619170 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
| Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... |
ORPHA:2414 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... |
DECIPHER:39 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... |
OMIM:615415 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
| Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl... |
ORPHA:369840 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... |
OMIM:193400 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... |
OMIM:619705 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
| Craniosynostosis 1 |
|
Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
| Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodactyly, Neonata... |
OMIM:608104 |
| Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, C... |
OMIM:600001 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ... |
ORPHA:90308 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Aortic valve stenosis, Flexion contracture, Pulmonic stenosis |
ORPHA:75496 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
| Emanuel Syndrome |
|
Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pate... |
OMIM:609029 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... |
ORPHA:3405 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... |
ORPHA:3426 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
| 3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Atrial se... |
OMIM:267010 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Arrhythmia |
OMIM:616298 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... |
OMIM:617022 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... |
OMIM:616564 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
| Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal... |
ORPHA:185 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
| Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Flexion con... |
OMIM:608149 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... |
ORPHA:363444 |
| Noonan Syndrome 5 |
|
Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:611553 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Biventricular hypertrophy, Subvalvular aortic stenosis |
OMIM:250951 |
| Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Polyhydramnios, Pulmonic stenosis, Edema |
OMIM:613224 |
| Emanuel Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma... |
ORPHA:96170 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
| Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Central Core Disease |
|
Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P... |
ORPHA:597 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Pulmonic stenosis, Facial te... |
OMIM:620141 |
| Cardiofaciocutaneous Syndrome 4 |
|
Ventricular septal hypertrophy, Polyhydramnios, Abnormal aortic valve morphology, Pulmonic stenosis |
OMIM:615280 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... |
OMIM:616028 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... |
OMIM:605275 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... |
OMIM:615524 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... |
OMIM:601186 |
| Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... |
OMIM:614185 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Mitral valve prolapse, Small thenar eminence, Camptodactyly, Joint con... |
OMIM:211960 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:70591 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
| Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell... |
ORPHA:2255 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
| Congenital Myopathy 11 |
|
Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Weakness of facial musculature, P... |
OMIM:619967 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Camptodactyly |
ORPHA:459061 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly |
OMIM:618804 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
| Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... |
OMIM:619698 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... |
OMIM:208050 |
| Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... |
OMIM:601808 |
| Costello Syndrome |
|
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... |
ORPHA:3071 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac se... |
ORPHA:96147 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Pulmonic stenosis |
OMIM:617600 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Trisomy 17P |
|
Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Macroglossia, Hypoplastic... |
ORPHA:261290 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... |
OMIM:618914 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
| Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Telangiectasia, Atrial s... |
ORPHA:101028 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
| Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... |
ORPHA:2177 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... |
ORPHA:97214 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... |
ORPHA:90349 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
| Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
| X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Dysplastic pulmonary valve |
OMIM:300958 |
| Stiff Skin Syndrome |
|
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture |
OMIM:184900 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Adrenal hypoplasia, Precocious atherosclerosis, Mitral valve prolapse, S... |
ORPHA:230839 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse, Hypogo... |
OMIM:606631 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic morph... |
ORPHA:1166 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... |
ORPHA:1120 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
| Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly |
OMIM:619123 |
| Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ... |
ORPHA:324604 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... |
OMIM:253800 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism |
OMIM:616816 |
| Alg9-Cdg |
|
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... |
ORPHA:79328 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Pulmonic stenosis,... |
OMIM:301056 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... |
OMIM:602782 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis |
OMIM:614325 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Facial palsy, Coarctation of aorta |
ORPHA:2780 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Geleophysic Dysplasia 1 |
|
Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit... |
OMIM:231050 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Diaphragmatic eventration, Neonatal death, Atrial septal... |
OMIM:608978 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Palpitations, Hypotensi... |
ORPHA:100078 |
| Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
| Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur... |
ORPHA:284979 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis,... |
OMIM:619745 |
| Anauxetic Dysplasia 1 |
|
Macroglossia, Hip contracture, Aortic valve stenosis, Elbow flexion contracture |
OMIM:607095 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Neonatal death, Atrial sep... |
OMIM:208540 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Mitral valve prolapse, Aor... |
ORPHA:171881 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pulmonic stenosis |
OMIM:616977 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul... |
ORPHA:459070 |
| Monosomy 13Q34 |
|
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
| Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
| Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Macroglossia, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... |
OMIM:619825 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition... |
OMIM:201000 |
| Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... |
ORPHA:90348 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis |
OMIM:615802 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... |
OMIM:300887 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Mitral valve prolapse |
ORPHA:2233 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
| Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Mitral valve prol... |
ORPHA:2183 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Intimal thickening in the coronary arteries, Mitral regurgitation |
OMIM:253010 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Polyhydramnios, Patent ductus arteriosus, Flexi... |
OMIM:616867 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation |
OMIM:618343 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... |
OMIM:617506 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
| Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:618651 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Mitral Valve Prolapse 1 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Congestive heart failure, Perimembranous ventricular septal defect... |
OMIM:608779 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Mitral regurgitation, Chylothorax, Aortic valv... |
OMIM:613563 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
| Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... |
OMIM:610443 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Paten... |
ORPHA:464311 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Mitral regurgita... |
ORPHA:1101 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
| Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
| Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation |
OMIM:615476 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Optic Atrophy 8 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:616648 |
| Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:300867 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
| Takenouchi-Kosaki Syndrome |
|
Lymphedema, Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis, Camp... |
OMIM:616737 |
| Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... |
OMIM:154700 |
| 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 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... |
ORPHA:508498 |
| Cerebrofacioarticular Syndrome |
|
Lymphedema, Camptodactyly, Pulmonic stenosis, Abnormal heart morphology |
ORPHA:314679 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... |
ORPHA:555877 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... |
OMIM:618223 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy... |
OMIM:300855 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... |
OMIM:619472 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
| Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Macroglossia,... |
OMIM:615668 |
| Brittle Cornea Syndrome |
|
Camptodactyly, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
| Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... |
ORPHA:500533 |
| Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... |
OMIM:607598 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... |
ORPHA:536471 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Camptodactyly of finger, Pat... |
ORPHA:261337 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612541 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... |
ORPHA:464306 |
| Atelis Syndrome 2 |
|
Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept... |
ORPHA:96121 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
| Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi... |
OMIM:300166 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Mitr... |
OMIM:603387 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricul... |
OMIM:619148 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se... |
ORPHA:352490 |
| 16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
| 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 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i... |
ORPHA:3453 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
| Fumarase Deficiency |
|
Ascites, Perimembranous ventricular septal defect, Polyhydramnios |
OMIM:606812 |
| Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... |
OMIM:616866 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Embryonal rhabdomyosarcoma, Pulmonic stenosis, Oligohydramnios |
OMIM:257300 |
| Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... |
ORPHA:3338 |
| Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:176690 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... |
OMIM:607721 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
| Fragile X Syndrome |
|
Macroorchidism, Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... |
ORPHA:284984 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
| Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... |
ORPHA:488632 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
| Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Torticollis, Facial hypotonia, Polyhydramnios, Patent ductus arteriosus, Mi... |
OMIM:618371 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... |
OMIM:618494 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Limb hypertonia |
OMIM:301058 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Lymphedema, Pulmonic stenosis, Atrial septal defect, Hypertrophi... |
ORPHA:1340 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... |
OMIM:615156 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:466926 |
| Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a... |
OMIM:617137 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse |
OMIM:225320 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... |
OMIM:300707 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Camptodactyly, Atrial sept... |
OMIM:301039 |
| Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:904 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased... |
OMIM:219080 |
| Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... |
ORPHA:115 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Quadricuspid aortic valve, Muscle fiber splitting, Mitral valve prolapse |
OMIM:606408 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... |
ORPHA:1329 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarctation of aorta, ... |
OMIM:616145 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... |
OMIM:618316 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale |
OMIM:615539 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
| Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... |
ORPHA:2970 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
| Mend Syndrome |
|
Limb hypertonia, Aortic valve stenosis, Abnormal heart morphology |
ORPHA:401973 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, I... |
OMIM:618870 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Intracranial hemorrhage, Dexamethasone-suppressi... |
ORPHA:403 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... |
OMIM:606003 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
| Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
| Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... |
OMIM:182250 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Limb hyperton... |
OMIM:620070 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Foot joint contracture |
OMIM:619641 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... |
OMIM:601776 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Tetralogy of ... |
OMIM:222470 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Joint swelling, Mitral regurgit... |
ORPHA:287 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse |
OMIM:300624 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Facial hypotonia, Polyhydramnios |
OMIM:611087 |
| 17Q12 Microduplication Syndrome |
|
