| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
| Coronary Arterial Fistula |
|
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... |
ORPHA:2041 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... |
OMIM:249670 |
| Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... |
ORPHA:99095 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Arteria... |
ORPHA:99050 |
| Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Maternal diabetes, Abnormal tricuspid valve morphology, Pulmonary arter... |
ORPHA:1208 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... |
ORPHA:422 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Polyvalvular Heart Disease Syndrome |
|
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... |
ORPHA:228410 |
| Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul... |
ORPHA:563 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... |
ORPHA:1457 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy, Dehydration |
ORPHA:79159 |
| Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology |
ORPHA:2868 |
| Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... |
OMIM:614262 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... |
ORPHA:99105 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... |
OMIM:618782 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... |
OMIM:601927 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... |
ORPHA:2299 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Hydrops fetalis, Pulmonary insufficiency, Ascites, Pulmonic stenosis,... |
OMIM:619433 |
| Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
| Cardiac Valvular Dysplasia 1 |
|
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... |
OMIM:212093 |
| Nephronophthisis 16 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve steno... |
OMIM:615382 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... |
OMIM:620135 |
| Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
ORPHA:2871 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
| Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
| Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
| Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... |
ORPHA:1354 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Dilatation of the ventricular cavity, Right v... |
OMIM:600996 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Right aortic arch, Hyp... |
OMIM:613854 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
| Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... |
ORPHA:1880 |
| Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Vascular dilatation, Atrial standstill, Stroke, Atrial card... |
OMIM:615745 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ... |
OMIM:185500 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Aortopulmonary window, Ventricular septal defect, Diaphragmatic eventration... |
OMIM:620025 |
| Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
| Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... |
ORPHA:1461 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Recurrent lower respiratory tract infections, Limb hypertonia, Perimembranous ventr... |
OMIM:619170 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:3304 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Persistent fetal circulation, Mitral valve prolapse, Atrial septal defe... |
OMIM:612863 |
| Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... |
ORPHA:363705 |
| Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... |
ORPHA:2414 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Peripheral edema, Abnormal P wa... |
ORPHA:99106 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... |
ORPHA:99103 |
| Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... |
ORPHA:99104 |
| Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... |
OMIM:253300 |
| Noonan Syndrome 8 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Left ventricular hypertrophy... |
OMIM:615355 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Oligohydramnios, Hypertrophic cardiomyopathy, Situs inversus totalis, Stillbi... |
OMIM:615415 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
| Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
| Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Myopathy, Right ventricular dilatation |
ORPHA:369847 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy, Right ventric... |
ORPHA:369840 |
| Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Pulm... |
OMIM:619149 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615279 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Dilatation of the ventricular cavity, Lower limb muscle weakness, Proximal muscle weakness in upp... |
ORPHA:363623 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:614676 |
| Von Willebrand Disease, Type 1 |
|
Mitral valve prolapse, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, A... |
OMIM:193400 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Patent d... |
ORPHA:210122 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
| Serkal Syndrome |
|
Pulmonic stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios |
ORPHA:139466 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac... |
ORPHA:402075 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Right ventricular dilatation, Tricus... |
OMIM:619705 |
| Truncus Arteriosus |
|
Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, Interrupte... |
ORPHA:3384 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Atrioventricular canal defect, Nonimmune hydrops fetalis, Pulmonary artery dilata... |
OMIM:265380 |
| Temple-Baraitser Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:611816 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... |
OMIM:208530 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... |
OMIM:609008 |
| Mungan Syndrome |
|
Tricuspid regurgitation, Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:611376 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
| Craniosynostosis 1 |
|
Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
| Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
| Snijders Blok-Campeau Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect |
OMIM:618205 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodactyly, Oligohydramnio... |
OMIM:608104 |
| Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
| Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Atrial s... |
ORPHA:90308 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification |
OMIM:114065 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis |
ORPHA:75496 |
| Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... |
OMIM:617877 |
| Tyshchenko Syndrome |
|
Polyhydramnios, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615102 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Torticollis, Atrial sept... |
OMIM:609029 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... |
ORPHA:3405 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Absent gallbladder, Pancreatic hypoplasia, Truncu... |
OMIM:600001 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... |
ORPHA:3426 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
| Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Atrial septal defect, Oligohydramnios, Situs inversus totalis, Aortic v... |
OMIM:267010 |
| 3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Atria... |
ORPHA:7 |
| Acquired Von Willebrand Syndrome |
|
Hypotension, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena, Mitral regurgitati... |
ORPHA:99147 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Aortic valve calcification, Arrhythmia |
OMIM:616298 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Dilatation of the ventricular cavity, Thickened Achilles tendon, Mitral valve prolapse, Aortic re... |
ORPHA:85438 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:3097 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Hypoplasia of the thymus, Ventricular septal defe... |
OMIM:617022 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspid aortic valve, Hypertension, A... |
OMIM:613355 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
| Noonan Syndrome 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... |
OMIM:616564 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
| Alagille Syndrome 2 |
|
Hypertension, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pu... |
OMIM:610205 |
| Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... |
OMIM:618164 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... |
OMIM:600987 |
| Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... |
ORPHA:2306 |
| Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, D... |
OMIM:608149 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect |
OMIM:617660 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Hypoplasia of the diaphragm, Abnormal ven... |
ORPHA:185 |
| Noonan Syndrome 3 |
|
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Ventricular septal defect, Mitral... |
OMIM:609942 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Camptoda... |
ORPHA:363444 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Facial telangiectasia, Pulmo... |
OMIM:620141 |
| Noonan Syndrome 5 |
|
Polyhydramnios, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Biventricular hypertrophy |
OMIM:250951 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
| Geleophysic Dysplasia 2 |
|
Pulmonary arterial hypertension, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Tr... |
OMIM:614185 |
| Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... |
OMIM:108900 |
| Central Core Disease |
|
Multiple joint contractures, Mitral valve prolapse, Central core regions in muscle fibers, Type 1... |
ORPHA:597 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agenesis, Pulmonary hypoplasia,... |
OMIM:611812 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
| Noonan Syndrome 6 |
|
Polyhydramnios, Pulmonic stenosis, Edema, Hypertrophic cardiomyopathy |
OMIM:613224 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Multiple joint contractu... |
ORPHA:96170 |
| Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
| Cardiofaciocutaneous Syndrome 4 |
|
Polyhydramnios, Abnormal aortic valve morphology, Pulmonic stenosis, Ventricular septal hypertrophy |
OMIM:615280 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita |
OMIM:615731 |
| Noonan Syndrome 2 |
|
Patent ductus arteriosus, Polyhydramnios, Atrioventricular canal defect, Abnormal coronary artery... |
OMIM:605275 |
| Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... |
ORPHA:3400 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart valve morphology, Emphysema |
ORPHA:171719 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Right ventricular hypertrophy, Right atria... |
OMIM:616028 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Mitral valve prolapse, Camptodactyly, Small hypothenar eminence, S... |
OMIM:211960 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Pulmonary hypoplasia, Congenital diaphragmati... |
OMIM:615524 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... |
OMIM:618845 |
| Monosomy 18Q |
|
Patent ductus arteriosus, Absence of the pulmonary valve, Left-to-right shunt, Secundum atrial se... |
ORPHA:1600 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Polyhydramnios, Atrioventricular canal defect, Right atrial isomeris... |
OMIM:306955 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... |
OMIM:609192 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... |
OMIM:601186 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Intracranial hemorr... |
ORPHA:363618 |
| Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Hypertension, Epistaxis, Mitral regurgitation, Aortic valve sten... |
OMIM:230800 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Congenital Myopathy 11 |
|
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Atrial septal defect, Weakness of... |
OMIM:619967 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Camptodactyly, Perimembranous ventricular septal defect |
OMIM:618804 |
| Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert... |
OMIM:619698 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Flexion contracture, Ischemic s... |
OMIM:208050 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Camptodactyly, Atrial septal defect |
ORPHA:459061 |
| Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Maternal diabetes, Atrial septal defec... |
ORPHA:2248 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
| Costello Syndrome |
|
Polyhydramnios, Thickened Achilles tendon, Ventricular septal defect, Mitral valve prolapse, Macr... |
ORPHA:3071 |
| Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
| Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
| Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... |
OMIM:601808 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Pancreatic hypoplasia, Neonatal insulin-dependent... |
ORPHA:2255 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
| Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology |
ORPHA:99811 |
| Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil... |
ORPHA:500 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
| Transaldolase Deficiency |
|
Hydrops fetalis, Telangiectasia, Atrial septal defect, Coarctation of aorta, Edema, Biventricular... |
ORPHA:101028 |
| Familial Atrial Myxoma |
|
Pedal edema, Bacterial endocarditis, Vascular dilatation, Pulmonic valve myxoma, Heart murmur, Co... |
ORPHA:615 |
| Isolated Right Ventricular Hypoplasia |
|
Pedal edema, Patent foramen ovale, Right bundle branch block, Bidirectional shunt, Systolic heart... |
ORPHA:439 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... |
OMIM:600884 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Joint contracture of the 5th finger, Joint contracture of the 4th finger, P... |
OMIM:618914 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pulmonic stenosis, Heart murmur |
OMIM:617600 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615996 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Abnormal cardiac septum morphology, Macroglossia, Coarctation of aorta, Aorti... |
ORPHA:96147 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
| Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia... |
ORPHA:2847 |
| Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
| Eisenmenger Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Aortopulmonary w... |
ORPHA:97214 |
| Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... |
ORPHA:2177 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:618282 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Dilatation of the ventricular cavity, Abnormal cardiac ventricular function, Vascular dilatation,... |
ORPHA:90349 |
| 3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Knee flexion contracture, Ventricular septal defect, Atrial septal defe... |
ORPHA:435638 |
| Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema |
OMIM:614100 |
| X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery, Pulmonic stenosis, Abnormal mitral valve morphology |
ORPHA:1131 |
| Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
| Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis,... |
OMIM:277600 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Ventricular septal defect, Truncus arteriosus, Interrupted aortic arch, At... |
OMIM:617478 |
| Loeys-Dietz Syndrome 2 |
|
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Camptodactyly, Ascending aortic dissectio... |
OMIM:610168 |
| Noonan Syndrome 4 |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Pul... |
OMIM:610733 |
| Camurati-Engelmann Disease, Type 2 |
|
Knee flexion contracture, Hip contracture, Hypogonadism, Mitral valve prolapse, Delayed puberty, ... |
OMIM:606631 |
| Trisomy 17P |
|
Patent ductus arteriosus, Flexion contracture, Macroglossia, Hypoplastic left heart, Skeletal mus... |
ORPHA:261290 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage |
OMIM:300049 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
| Stiff Skin Syndrome |
|
Knee flexion contracture, Bicuspid aortic valve, Elbow flexion contracture, Camptodactyly |
OMIM:184900 |
| Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... |
OMIM:100300 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Conge... |
ORPHA:1166 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Mitral valve prolapse, Skeletal muscle atrophy, Precocious atherosclerosis, Stroke, Adrenal hypop... |
ORPHA:230839 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Dysplastic pulmonary valve |
OMIM:300958 |
| Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Stroke, Facial palsy |
OMIM:182410 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bicuspid aortic valve, Abnormal aortic v... |
ORPHA:1120 |
| Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:615508 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... |
ORPHA:251274 |
| Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:613706 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect |
OMIM:619123 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Mitral stenosi... |
OMIM:231050 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Mass Syndrome |
|
Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection |
OMIM:604308 |
| Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Ventricular septal defect, Secundum atrial septal defect, Hyp... |
OMIM:618901 |
| Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
| Cat Eye Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:115470 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect |
OMIM:300887 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Arterial occlusion, Cardiogenic shock, Edema, Arrhythmia, Right ventricular failure,... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Hypotension, Arterial occlusion, Cardiogenic shock, Edema, Arrhythmia, Right ventricular failure,... |
ORPHA:100077 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Mitral valve prolapse,... |
ORPHA:324604 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
| Meacham Syndrome |
|
Pulmonary hypoplasia, Aplasia of the left hemidiaphragm, Ventricular septal defect, Congenital al... |
OMIM:608978 |
| Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... |
ORPHA:95459 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Alg9-Cdg |
|
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... |
ORPHA:79328 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis |
OMIM:614325 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect, Cryptorchidism |
OMIM:616816 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Dilated cardiomyopat... |
OMIM:253800 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Camptodactyly of finger, Facial telang... |
OMIM:602782 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial palsy, Aortic valve stenosis, Coarctation of aorta |
ORPHA:2780 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Abnormal cardiac septum morphology |
ORPHA:2412 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal defect, Intracranial hemorrhage, ... |
ORPHA:369929 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Double outlet right ventricle, Ventricular septal defect, Arthrogryposis multiple... |
OMIM:301056 |
| Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Flexion contracture, Heart murmur, Mitral... |
ORPHA:284979 |
| Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:619189 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Patent ductus arteriosus, Atrial septal defect, Oligohydramnios, Situs inversus totalis, Aortic v... |
OMIM:208540 |
| Anauxetic Dysplasia 1 |
|
Aortic valve stenosis, Elbow flexion contracture, Hip contracture, Macroglossia |
OMIM:607095 |
| Cap Myopathy |
|
Aortic root aneurysm, Increased variability in muscle fiber diameter, Generalized amyotrophy, Low... |
ORPHA:171881 |
| Noonan Syndrome 14 |
|
Polyhydramnios, Mitral valve prolapse, Aortic regurgitation, Hypertrophic cardiomyopathy, Scapula... |
OMIM:619745 |
| Down Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... |
OMIM:190685 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Dextrocardia, Abnormal tricuspid valve morphology |
ORPHA:1759 |
| Monosomy 13Q34 |
|
Epistaxis, Common atrium, Hematochezia, Pulmonic stenosis |
ORPHA:96168 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Congenital diaphrag... |
OMIM:309801 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618330 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia |
OMIM:617021 |
| Weill-Marchesani Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture, Congestive heart ... |
OMIM:608328 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... |
OMIM:613870 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Polyhydramnios, Lower-limb joint contracture, Dilatation of the ventricular cavity, Ventricular s... |
ORPHA:459070 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
| Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... |
ORPHA:2396 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending aortic d... |
OMIM:619825 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Bilateral lung agenesis, Abnormal cardiac septum morphology, Coarctatio... |
OMIM:601612 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Carpenter Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Joint contracture of the hand, Camptodactyly... |
OMIM:201000 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve, Macroglossia |
OMIM:614501 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Aortic aneurysm, Congestive heart failure, Coarctation of a... |
ORPHA:90348 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse, Hypogonadism, Abnormal testis morphology |
ORPHA:2233 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Familial Aortic Dissection |
|
Aortic root aneurysm, Patent ductus arteriosus, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pulmonic stenosis |
OMIM:616977 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
| Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnor... |
ORPHA:980 |
| Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Lymphedema, Congestive heart failure, Venous insufficiency, Peripheral arteri... |
ORPHA:2346 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... |
ORPHA:401935 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... |
OMIM:612946 |
| Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Congenital diaphragmatic hernia, Tetralogy of Fallot |
OMIM:613630 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Mitral regurgitation, Intimal thickening in the coronary arteries |
OMIM:253010 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis |
OMIM:615802 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Subvalvular aortic stenosis, Increased variability in muscle fiber diameter, Knee flexion contrac... |
OMIM:619461 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
| Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... |
OMIM:601005 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Edema, Arrhythmia, Right ventricular failure, Palpitations, Tricu... |
ORPHA:100076 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
| Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Stillbirth, Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Flexion contracture, Increased va... |
OMIM:616867 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogona... |
ORPHA:2183 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Pulmonic stenosis, Camptodactyly, Aortic dissection, Varicose veins |
OMIM:618343 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular septal defect |
OMIM:618651 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Cardiomyocyte h... |
OMIM:605676 |
| Mitral Valve Prolapse 1 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:157700 |
| Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Congestive heart failure, Perimembranous ... |
OMIM:608779 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Polyhydramnios, Patent foramen ovale, Right bundle branch block, Patent duc... |
OMIM:617506 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Systolic heart murmur, Dilatation of the ventr... |
OMIM:619991 |
| Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Camptodactyly, Ventricular septal defect |
OMIM:272950 |
| Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Patent ductus arteriosus, Wrist flexion contracture, Knee flexion contractu... |
OMIM:121050 |
| Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Stroke, Card... |
OMIM:249270 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Hypoplasia of the musculature, Mitral regurgitation, Tricuspid valve pro... |
ORPHA:1101 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Subvalvular aortic stenosis, Patent ductus arteriosus |
ORPHA:1338 |
| Mosaic Trisomy 20 |
|
Dysplastic tricuspid valve, Ventricular septal defect, Abnormal mitral valve morphology |
ORPHA:1724 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Polyhydramnios, Lymphedema, Bicuspid aortic valve, Mitral regurgitation, Chylothorax, Aortic valv... |
OMIM:613563 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... |
OMIM:126320 |
| Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Polyhydramnios, Atrial septal defect, Oligohydramnios |
OMIM:615476 |
| Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, Coarctation of aorta |
OMIM:300867 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve,... |
OMIM:610443 |
| Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Tricuspid regurgitation, Flexion contract... |
OMIM:154700 |
| Optic Atrophy 8 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:616648 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Camptodactyly of finger, Flexion contra... |
OMIM:143095 |
| Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Mitral atresia, Ventricular septal defect, Macroglossia, Atrial septal ... |
OMIM:614609 |
| Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... |
OMIM:157800 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Oligohydramnios, Aortic regu... |
ORPHA:464311 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:610759 |
| Takenouchi-Kosaki Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Lymphedema, Camptodactyly, Pulmonic... |
OMIM:616737 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect, Ri... |
OMIM:231060 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
| Cerebrofacioarticular Syndrome |
|
Pulmonic stenosis, Camptodactyly, Abnormal heart morphology, Lymphedema |
ORPHA:314679 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... |
ORPHA:1913 |
| Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
ORPHA:70474 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
| Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Premature atrial contractions, Pulmonary arter... |
OMIM:300855 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... |
ORPHA:555877 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
| Viss Syndrome |
|
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Carotid artery dilatation, C... |
OMIM:619472 |
| Brittle Cornea Syndrome |
|
Mitral valve prolapse, Camptodactyly, Pulmonic stenosis |
ORPHA:90354 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Myhre Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Camptodactyly, Hyperte... |
OMIM:139210 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... |
OMIM:618223 |
| Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Skeletal muscle atrophy... |
OMIM:607598 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal right hemidiaphragm morphology, Ascending tubular aorta aneurysm, Flexion contracture, M... |
ORPHA:536471 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Common carotid artery aneurysm, Aortic... |
OMIM:613834 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Polyhydramnios, Decreased muscle mass, Congestive heart failure, Atrial septal defect, Facial hyp... |
ORPHA:500533 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia |
OMIM:617450 |
| 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Conge... |
ORPHA:96121 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Secundum atrial septal defect, Cor tri... |
OMIM:612541 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Camptodactyly of to... |
ORPHA:261337 |
| Cantu Syndrome |
|
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... |
OMIM:239850 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:610198 |
| Schuurs-Hoeijmakers Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum mo... |
OMIM:615009 |
| Microphthalmia, Syndromic 2 |
|
Patent ductus arteriosus, Double outlet right ventricle, Flexion contracture, Ventricular septal ... |
OMIM:300166 |
| Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Camptodactyly, Ascending aortic dissection, Thoracic ... |
OMIM:613795 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Vascular ring, Atrial septal defect, Mitral ... |
OMIM:603387 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Camptodactyly, Left ventricular hypertrophy, Pulmonic stenosis, Small t... |
OMIM:619148 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Multiple joint contractures, Oligohydramnios... |
ORPHA:464306 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Arrhythmia, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mi... |
OMIM:177850 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Atrial septal defect, Abnormal heart morphology, Joint contracture... |
ORPHA:352490 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Abnormal cerebral ... |
ORPHA:3453 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta |
OMIM:615502 |
| Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Third degree atrioventricular block, Bundle branch block, Mitral val... |
OMIM:151100 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:500159 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Hypertroph... |
OMIM:607721 |
| Coffin-Siris Syndrome 7 |
|
Polyhydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Oligohydr... |
OMIM:618027 |
| Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:176690 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormal cardiac ventricular function, Ventricula... |
ORPHA:466791 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:301040 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Embryonal rhabdomyosarcoma, Pulmonic stenosis, Atrial septal defect, Oligohydramnios |
OMIM:257300 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm, Cryptorchidism |
ORPHA:261102 |
| Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Camptodactyly, Ventricular septal defect, Atrial septal defect |
OMIM:300963 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... |
OMIM:616866 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology, Atrial septal defect |
ORPHA:485405 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Accelerated atherosclerosis, Mitral stenosis, Mit... |
OMIM:264800 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Mitral valve prolapse, Mitral regurgitation, Hypertension |
OMIM:173900 |
| Aneurysm-Osteoarthritis Syndrome |
|
Abdominal aortic aneurysm, Patent ductus arteriosus, Camptodactyly of finger, Vascular dilatation... |
ORPHA:284984 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Tbck-Related Intellectual Disability Syndrome |
|
Diastasis recti, Ventricular septal defect, Macroglossia, Oligohydramnios, Skeletal muscle atroph... |
ORPHA:488632 |
| Cardiofaciocutaneous Syndrome |
|
Lymphedema, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart ... |
ORPHA:1340 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
| Fragile X Syndrome |
|
Macroorchidism, Mitral valve prolapse, Ascending tubular aorta aneurysm |
ORPHA:908 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular septal defect, Atrial ... |
ORPHA:290 |
| Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect |
OMIM:614261 |
| Turnpenny-Fry Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Mitral valve prolapse, Torticollis, Atrial septal defec... |
OMIM:618371 |
| Developmental And Epileptic Encephalopathy 90 |
|
Limb hypertonia, Atrial septal defect |
OMIM:301058 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly, Coarctation of aorta, Dextrocardia, Cryptorchidism, Ove... |
OMIM:616145 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris... |
ORPHA:740 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Abnormal circulat... |
ORPHA:404 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Polyhydramnios, Atrial septal defect |
ORPHA:466926 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation |
OMIM:225320 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal defect, P... |
OMIM:300707 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting, Mitral valve prolapse, Quadricuspid aortic valve |
OMIM:606408 |
| Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Aortic aneurysm, Arthrogrypo... |
ORPHA:115 |
| Williams Syndrome |
|
Sudden cardiac death, Aortic arch aneurysm, Abnormal cardiac septum morphology, Abnormal carotid ... |
ORPHA:904 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
| Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Mit... |
OMIM:617168 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Coarctati... |
OMIM:618494 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder g... |
OMIM:615156 |
| Frontometaphyseal Dysplasia 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Decreased muscle mass, Hip contracture, Bicuspid ... |
OMIM:617137 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... |
ORPHA:75249 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Atrial septal defect, Mitral regu... |
OMIM:301039 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:618142 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse, Camptodactyly, Mitral regurgitation, Facial hypotonia |
OMIM:615539 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Prune Belly Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Aplas... |
ORPHA:2970 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:618316 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
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Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
| Transaldolase Deficiency |
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Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Atrial... |
OMIM:606003 |
| Fragile X Syndrome |
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Congenital macroorchidism, Mitral valve prolapse, Macroorchidism, postpubertal |
OMIM:300624 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Increased variability in muscle fiber diameter, Cardiomyopathy, Muscle fiber atrophy, Generalized... |
OMIM:258450 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:329224 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
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Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
| Mend Syndrome |
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Aortic valve stenosis, Abnormal heart morphology, Limb hypertonia |
ORPHA:401973 |
| 20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect |
ORPHA:261295 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
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Mitral valve prolapse |
OMIM:225310 |
| Charge Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Double outlet right ventricle, Ventricular septal defec... |
OMIM:214800 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618870 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
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Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Patent ductus arteriosus, Ascending tubular aorta aneurysm, Truncus arteriosus, Perimembranous ve... |
OMIM:612474 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect |
OMIM:617751 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Bicuspid aortic valve, Atrial... |
ORPHA:353281 |
| Familial Hyperaldosteronism Type I |
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Intracranial hemorrhage, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortica... |
ORPHA:403 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
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Ventricular septal defect |
OMIM:235750 |
| Melnick-Needles Syndrome |
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Pulmonary arterial hypertension, Mitral valve prolapse, Stillbirth, Tricuspid valve prolapse |
OMIM:309350 |
| Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
| Singleton-Merten Syndrome 1 |
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Subvalvular aortic stenosis, Aortic arch calcification, Muscle fiber atrophy, Congestive heart fa... |
OMIM:182250 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Distal arthrogryposis, Diastasis recti, Mitral valve prolapse, Atrial septal defect, Aortic regur... |
OMIM:601776 |
| Okamoto Syndrome |
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Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... |
ORPHA:2729 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
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Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu... |
ORPHA:88630 |
| Megalencephaly |
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Atrial septal defect |
ORPHA:2477 |
| Feingold Syndrome Type 1 |
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Patent ductus arteriosus, Interrupted aortic arch, Abnormal heart morphology, Multiple muscular v... |
ORPHA:391641 |
| Hengel-Maroofian-Schols Syndrome |
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Bicuspid aortic valve, Foot joint contracture |
OMIM:619641 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Arthrogry... |
OMIM:208085 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
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