| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... |
ORPHA:2041 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Pulmonic Stenosis And Deafness |
|
Pulmonic stenosis, Ventricular hypertrophy |
OMIM:178651 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
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 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... |
ORPHA:99095 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Atrial Fibrillation, Familial, 13 |
|
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis |
OMIM:615377 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascular system phys... |
ORPHA:422 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Maternal diabetes, Patent ductus arteriosus, Pulmonary arter... |
ORPHA:1208 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... |
OMIM:614022 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... |
OMIM:614262 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... |
ORPHA:228410 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Hypertension,... |
ORPHA:563 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary insufficiency, ... |
OMIM:619433 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dehydration, Dilated cardiomyopathy |
ORPHA:79159 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis |
OMIM:616298 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| 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 |
| Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
Pulmonic stenosis, Abnormal heart valve morphology |
OMIM:126190 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... |
OMIM:609040 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
| Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation |
ORPHA:3449 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Anomalous pulmonary venous return, Atrial arrhythmia, Stroke, Systol... |
ORPHA:99105 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis, Retinal arterial macroaneurysms |
OMIM:614224 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Patent ductus art... |
OMIM:618782 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Lymphedema, P... |
OMIM:601927 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
| Weill-Marchesani Syndrome 3 |
|
Pulmonic stenosis, Aortic valve stenosis |
OMIM:614819 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
| Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... |
OMIM:620067 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... |
OMIM:615382 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Situs inversus totalis, Ol... |
OMIM:615415 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... |
OMIM:600996 |
| Mcdonough Syndrome |
|
Diastasis recti, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular sept... |
OMIM:248950 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, S... |
ORPHA:85451 |
| Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... |
OMIM:185500 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
| Atrial Standstill 2 |
|
Atrial arrhythmia, Stroke, Atrial standstill, Palpitations, Absent P wave, Vascular dilatation, A... |
OMIM:615745 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Ventricular septal defect, Pulmonar... |
OMIM:620025 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
| Sarcosinemia |
|
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy |
ORPHA:3129 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
| Noonan Syndrome 11 |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:618499 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... |
OMIM:612863 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... |
OMIM:615616 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Skeletal muscle atrophy, Atrial septal defect, Coarctation of aorta |
OMIM:614300 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... |
OMIM:212093 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
| Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pulmonary arterial... |
ORPHA:2414 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... |
ORPHA:363705 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricular canal defect, Cryptorchid... |
DECIPHER:39 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect |
OMIM:178650 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... |
ORPHA:477817 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Limb hypertonia, Perimembranous ventricular septal ... |
OMIM:619170 |
| Hypercalcemia, Infantile, 1 |
|
Pulmonic stenosis, Dehydration, Aortic valve stenosis |
OMIM:143880 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... |
OMIM:253300 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Ped... |
ORPHA:99103 |
| Cardiomyopathy, Dilated, 2E |
|
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
| Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
OMIM:261560 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... |
OMIM:615355 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... |
ORPHA:99104 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
| Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... |
ORPHA:324410 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... |
OMIM:619149 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... |
ORPHA:860 |
| Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... |
OMIM:224700 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
| Neurofibromatosis-Noonan Syndrome |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:638 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy |
ORPHA:369847 |
| Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Gast... |
OMIM:193400 |
| Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia |
ORPHA:139466 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy |
OMIM:614676 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Lower limb muscle weakness, Dilatation of the ventricular cavity, Distal lower limb muscle weakne... |
ORPHA:363623 |
| Catel-Manzke Syndrome |
|
Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Cryptorchidism, Ove... |
OMIM:616145 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular dilatation, Tricus... |
OMIM:619705 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Diastasis re... |
OMIM:265380 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
| Mungan Syndrome |
|
Pulmonic stenosis, Tricuspid regurgitation, Perimembranous ventricular septal defect |
OMIM:611376 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, ... |
OMIM:609029 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Abnormal left ventricular function, Stroke, Posterior cerebral artery sten... |
OMIM:132900 |
| Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro... |
OMIM:609008 |
| Craniosynostosis 1 |
|
Systolic heart murmur, Aortic valve stenosis |
OMIM:123100 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Camptodactyly, Patent ductus arteriosus, Edema, Oligohydramnios, Perimembranous v... |
OMIM:608104 |
| Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Transposition of the great arteries, ... |
OMIM:617877 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Peripheral arteriovenous fistula, Hydrops fetalis, Pulmonary embolism, Pate... |
ORPHA:90308 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect |
OMIM:615102 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardi... |
OMIM:617022 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonic stenosis, Skeletal muscle atrophy, Aortic valve stenosis, Flexion contracture |
ORPHA:75496 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation |
OMIM:114065 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
OMIM:600001 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Situs inversus totali... |
OMIM:267010 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... |
ORPHA:3426 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... |
ORPHA:7 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Mend Syndrome |
|
Aortic valve stenosis |
OMIM:300960 |
| Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... |
ORPHA:99147 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... |
OMIM:614954 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Thickened Achilles tendon, Mitral valve prolapse, Aortic regurgitation, Dilatation of the ventric... |
ORPHA:85438 |
| Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Aortic valve stenosis, Congenital diaphragmatic hernia, Flexion con... |
OMIM:208050 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... |
ORPHA:2306 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... |
OMIM:616564 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C... |
OMIM:619343 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... |
OMIM:613355 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallo... |
OMIM:610205 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
| Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Ventricular septal... |
OMIM:608149 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Left-to-right shunt, Muscular ventricular septal defect, Camptodactyly, Pat... |
ORPHA:363444 |
| Noonan Syndrome 3 |
|
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Pol... |
OMIM:609942 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... |
OMIM:600987 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... |
OMIM:314400 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Pulmonic stenosis, Arrhythmia, Polyhydramnios, Hypertrophic cardiomyopathy |
OMIM:611553 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:2701 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
| Noonan Syndrome 6 |
|
Pulmonic stenosis, Polyhydramnios, Hypertrophic cardiomyopathy, Edema |
OMIM:613224 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctat... |
OMIM:605275 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pulmonary artery stenosis |
OMIM:614432 |
| Emanuel Syndrome |
|
Multiple joint contractures, Aortic valve stenosis, Atrial septal defect, Congenital diaphragmati... |
ORPHA:96170 |
| Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:243310 |
| Cardiofaciocutaneous Syndrome 4 |
|
Pulmonic stenosis, Polyhydramnios, Ventricular septal hypertrophy, Abnormal aortic valve morphology |
OMIM:615280 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Biventricular hypertrophy |
OMIM:250951 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... |
OMIM:616028 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small thenar eminence, Camptodactyly, Mitral valve prolapse, Small... |
OMIM:211960 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal systemic arterial morphology, Vascular dilatation,... |
ORPHA:90349 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect |
ORPHA:1388 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Single ventricle, Diaph... |
OMIM:601186 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hy... |
OMIM:611812 |
| Geleophysic Dysplasia 2 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral regurgitation, Mitral valve pr... |
OMIM:614185 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Rig... |
ORPHA:70591 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... |
ORPHA:363618 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hy... |
OMIM:615524 |
| Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic valve stenosis, Aortic regurgit... |
OMIM:619698 |
| Distal Monosomy 19P13.3 |
|
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia |
ORPHA:96129 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonary artery aneurysm, Ascending aortic dissecti... |
OMIM:609192 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Aortic valve stenosis, Secundum atrial septal defect, Dysplastic ... |
ORPHA:1600 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... |
OMIM:306955 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal defect |
OMIM:618804 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Atrial septal defect |
ORPHA:3469 |
| Myopathy, Congenital, Nonprogressive |
|
Atrial septal defect, Weakness of facial musculature, Polyhydramnios, Patent ductus arteriosus, P... |
OMIM:619967 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Costello Syndrome |
|
Macroglossia, Pulmonic stenosis, Thickened Achilles tendon, Ventricular septal defect, Polyhydram... |
ORPHA:3071 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
| Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Te... |
ORPHA:101028 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Camptodactyly |
ORPHA:459061 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... |
OMIM:601808 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Mitral regurgitation, Hypertension, Pulmonary arterial hypertension, Epist... |
OMIM:230800 |
| Thymic Aplasia With Fetal Death |
|
Stillbirth, Abnormality of the endocrine system, Pulmonary hypoplasia, Truncus arteriosus |
OMIM:274210 |
| Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... |
ORPHA:500 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Anterior pituitary agenesis, Atrial septal defect, Congenital diaphr... |
ORPHA:2255 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
| 3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Kne... |
ORPHA:435638 |
| Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence, Joint contracture ... |
OMIM:618914 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... |
ORPHA:2177 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... |
OMIM:600884 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... |
ORPHA:96147 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... |
ORPHA:2847 |
| Subaortic Stenosis, Membranous |
|
Subvalvular aortic stenosis |
OMIM:271950 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pulmonic stenosis, Heart murmur |
OMIM:617600 |
| Eisenmenger Syndrome |
|
Bacterial endocarditis, Stroke, Atrial septal defect, Atrioventricular canal defect, Tetralogy of... |
ORPHA:97214 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
| Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Abnormal heart morphology, Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Mitral valve prolapse, Hypogonadism, Knee flexion contracture, Delayed puberty, ... |
OMIM:606631 |
| Noonan Syndrome 4 |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Polyhydramnios, Hypertrophic ... |
OMIM:610733 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
| Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Mitral valve prolapse, Aort... |
OMIM:610168 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Pulmo... |
OMIM:100300 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... |
OMIM:277600 |
| X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery |
ORPHA:1131 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Mitral valve prolapse, Adrenal hypoplasia, Skeletal muscle atrophy, Precocious atheroscle... |
ORPHA:230839 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Macroglossia, Flexion contracture, Patent ductus a... |
ORPHA:261290 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... |
ORPHA:1120 |
| Periventricular Nodular Heterotopia 1 |
|
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Bicuspid aortic valve, Aortic valve stenosis, Macroglossia |
OMIM:614501 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... |
ORPHA:1166 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Dysplastic pulmonary valve |
OMIM:300958 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac a... |
ORPHA:49827 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrioventricular canal defect |
OMIM:619123 |
| Noonan Syndrome 7 |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:613706 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke |
OMIM:182410 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
| Cat Eye Syndrome |
|
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of ... |
OMIM:115470 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... |
OMIM:612561 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Heart murmur, Ventricular septal defect, Patent ductus arteriosus, Perimemb... |
OMIM:158170 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Secundum atrial septal defect, Hypoplastic left heart, Aplasi... |
OMIM:618901 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100077 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:615508 |
| Noonan Syndrome 14 |
|
Pulmonic stenosis, Polyhydramnios, Aortic regurgitation, Mitral valve prolapse, Scapular winging,... |
OMIM:619745 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Atrial septal defect, Pulmonic stenosis, Camptodactyly of finger, ... |
OMIM:602782 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:251274 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis |
OMIM:614325 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:617044 |
| Meacham Syndrome |
|
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... |
OMIM:608978 |
| Alg9-Cdg |
|
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Tricuspid regurgitation, Hydrop... |
ORPHA:79328 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
| Geleophysic Dysplasia 1 |
|
Mitral stenosis, Aortic valve stenosis, Joint contracture of the hand, Tricuspid stenosis, Campto... |
OMIM:231050 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial palsy, Aortic valve stenosis, Coarctation of aorta |
ORPHA:2780 |
| Neonatal Marfan Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Flexion... |
ORPHA:284979 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Abnormal left ventricular function, Pulmonic stenosis, Pulmonary a... |
OMIM:301056 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Patent ductus ... |
OMIM:613870 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:2412 |
| Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Macroglossia, Atrioventricular canal defect,... |
OMIM:190685 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Common atrium, Epistaxis, Hematochezia |
ORPHA:96168 |
| Anauxetic Dysplasia 1 |
|
Hip contracture, Aortic valve stenosis, Elbow flexion contracture, Macroglossia |
OMIM:607095 |
| Mucopolysaccharidosis, Type Ivb |
|
Intimal thickening in the coronary arteries, Aortic valve stenosis |
OMIM:253010 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular septal defect, Adrenal hyperplasia, Abnormal circulating ren... |
ORPHA:369929 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619189 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Aortic valve stenosis, Neonatal death, Situs inversus totalis, Patent ductu... |
OMIM:208540 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Lower-limb joint contracture, Atrial septal defect, Pulmonary artery stenosis, Ventricular septal... |
ORPHA:459070 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Calf muscle hy... |
OMIM:253800 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Aortic valve stenosis, Chylothorax, Mitral regurgitation, Polyhydramnios, ... |
OMIM:613563 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... |
ORPHA:171881 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
| Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, P... |
ORPHA:2396 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Tricuspid valve prolapse, Patent ductus arteriosus, Atrioventricular canal defect |
ORPHA:276413 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios |
OMIM:617021 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ascending aortic dissection, Vent... |
OMIM:608328 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Camptodactyly of finger |
ORPHA:1759 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... |
OMIM:601612 |
| Grange Syndrome |
|
Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pulmonic stenosis |
OMIM:616977 |
| Carpenter Syndrome 1 |
|
Atrial septal defect, Joint contracture of the hand, Pulmonic stenosis, Tetralogy of Fallot, Camp... |
OMIM:201000 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618652 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Angioosteohypertrophic Syndrome |
|
Tricuspid valve prolapse, Telangiectasia of the skin, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:2346 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse, Abnormal testis morphology, Hypogonadism |
ORPHA:2233 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve, Ascending aortic dissection, Aortic regurgitation, Aortic root aneurysm, A... |
OMIM:619825 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Arrhythmia... |
OMIM:309801 |
| Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Mitral regurgitation, Coarctation of aorta, Aortic regurgit... |
ORPHA:90348 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... |
ORPHA:401935 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... |
ORPHA:980 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
| Sc phocomelia syndrome |
|
Hip contracture, Aortic valve stenosis, Knee flexion contracture |
OMIM:269000 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect |
OMIM:263630 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect |
OMIM:618223 |
| Duodenal Neuroendocrine Tumor |
|
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... |
ORPHA:100076 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... |
OMIM:619461 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Pulmonic stenosis, Skeletal muscle atrophy, Secundum atrial septal defect |
OMIM:615802 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... |
OMIM:616867 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot |
OMIM:613630 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Flexion contracture |
OMIM:618651 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Mitral valve prolapse, Abnormality of the hypothalamus-pituitary ... |
ORPHA:2183 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Popov-Chang syndrome |
|
Pulmonic stenosis, Hypertension |
OMIM:618428 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
| Mitral Valve Prolapse 1 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:157700 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... |
OMIM:618052 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Card... |
OMIM:249270 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:601450 |
| Liver Disease, Severe Congenital |
|
Abnormal left ventricular function, Pulmonary edema, Atrial septal defect, Systolic heart murmur,... |
OMIM:619991 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... |
OMIM:605676 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
| Shashi-Pena Syndrome |
|
Atrial septal defect |
OMIM:617190 |
| Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Wrist flexion... |
OMIM:121050 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Hypoplasia of the musculature, Tricuspid regurgitation, Mitral regurgit... |
ORPHA:1101 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... |
OMIM:126320 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation, Pulmonic ste... |
OMIM:617506 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormal mitral valve morphology, Dysplastic tricuspid valve |
ORPHA:1724 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Teebi-Shaltout Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Camptodactyly |
OMIM:272950 |
| Kabuki Syndrome 2 |
|
Pulmonic stenosis, Atrial septal defect, Coarctation of aorta, Atrioventricular canal defect |
OMIM:300867 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Aortic valve stenosis, Ventricular septal defect, Polyhydramnios, ... |
ORPHA:464311 |
| Marfan Syndrome |
|
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Tricuspid regurgit... |
OMIM:154700 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Coarctation of aorta, Tetralogy of Fallot, ... |
ORPHA:508498 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
| Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Pulmonic stenosis, Camptodactyly, Lymphedema, Patent ductus a... |
OMIM:616737 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... |
OMIM:130090 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... |
OMIM:608406 |
| Optic Atrophy 8 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:616648 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... |
OMIM:610759 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:1913 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... |
OMIM:610443 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Subvalvular aortic stenosis, Patent ductus arteriosus |
ORPHA:1338 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Cerebrofacioarticular Syndrome |
|
Pulmonic stenosis, Lymphedema, Camptodactyly, Abnormal heart morphology |
ORPHA:314679 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Knee flexion contracture, ... |
OMIM:603387 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
| Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, Mitral... |
OMIM:157800 |
| Leigh Syndrome With Cardiomyopathy |
|
Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac conduction abnormality, ... |
ORPHA:70474 |
| Ogden Syndrome |
|
Ventricular septal defect, Cardiomegaly, Torsade de pointes, Peripheral pulmonary artery stenosis... |
OMIM:300855 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid regurgitation, Flexion contracture, Tricuspid s... |
OMIM:143095 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... |
OMIM:619472 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Tricuspid regurgitation, Macroglossia, Camptodactyly of toe, Camptodact... |
ORPHA:261337 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Congestive heart f... |
ORPHA:500533 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Arthrogryposis multiplex conge... |
OMIM:607598 |
| Turnpenny-Fry Syndrome |
|
Tricuspid valve prolapse, Torticollis, Atrial septal defect, Polyhydramnios, Aortic regurgitation... |
OMIM:618371 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Cor triatriatum, Patent d... |
OMIM:612541 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... |
ORPHA:189439 |
| Myhre Syndrome |
|
Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Skeletal muscle hype... |
OMIM:139210 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Mitral valve prolapse, Muscle fiber splitting, Quadricuspid aortic valve, Proximal amyotrophy |
OMIM:606408 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Joint contracture of the hand, Joint contracture of the 5th finger, Arthrog... |
ORPHA:352490 |
| Brittle Cornea Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Camptodactyly |
ORPHA:90354 |
| Schuurs-Hoeijmakers Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Patent ductus arteriosus, Patent foram... |
OMIM:615009 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal ... |
ORPHA:96121 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... |
OMIM:239850 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral regurgitation, Camptodactyly, Mitral valve prolapse, Patent foramen ovale, Facial hypotonia |
OMIM:615539 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block, Vent... |
OMIM:115197 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta |
OMIM:615502 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pulmonic stenosis, Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Patent duc... |
OMIM:619148 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... |
OMIM:613795 |
| Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Contracture of the proximal interphalangeal joint of the 3rd toe, ... |
OMIM:300166 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Aortic valve stenosis, Ventricular septal defect, Aortic regurgitati... |
ORPHA:464306 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... |
OMIM:177850 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Atrial septal defect, Aortic valve stenosis, Flexion contracture, Pr... |
ORPHA:536471 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... |
ORPHA:500159 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Dysplastic pulmonary valve |
OMIM:619103 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Polyhydramnios, Aortic regurg... |
OMIM:607721 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Camptodactyly |
OMIM:300963 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Legius Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Paroxysmal atrial tachycardia |
ORPHA:137605 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Right ventricular hypertrophy, Left ventricular hy... |
ORPHA:466791 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormality of the pul... |
ORPHA:290 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Polyhydramnios, Atrial septal defect |
ORPHA:466926 |
| Pseudoxanthoma Elasticum |
|
Mitral stenosis, Angina pectoris, Intermittent claudication, Stroke, Restrictive cardiomyopathy, ... |
OMIM:264800 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Macroglossia |
OMIM:301040 |
| Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
| Progeroid Short Stature With Pigmented Nevi |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:176690 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Arrhythmia, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Atrioventricular block, Abnormal P wave, Primum atrial septal defe... |
ORPHA:1329 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
| Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse, Macroorchidism |
ORPHA:908 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgitation |
OMIM:173900 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Bicuspid aortic valve, Pulmonic stenosis, Camptodactyly, Patent ductus arteriosu... |
OMIM:617137 |
| Congenital Contractural Arachnodactyly |
|
Flexion contracture, Camptodactyly of finger, Mitral valve prolapse, Arthrogryposis multiplex con... |
ORPHA:115 |
| Aneurysm-Osteoarthritis Syndrome |
|
Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Camptodactyly of finger, A... |
ORPHA:284984 |
| Tbck-Related Intellectual Disability Syndrome |
|
Diastasis recti, Macroglossia, Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Ske... |
ORPHA:488632 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| 16P12.1P12.3 Triplication Syndrome |
|
Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect, Abnormal heart morphology |
ORPHA:485405 |
| Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, Sudden cardiac de... |
ORPHA:904 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect |
OMIM:618142 |
| Prune Belly Syndrome |
|
Atrial septal defect, Aplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular... |
ORPHA:2970 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse, Aortic regurgitation, Mitral regurgitation |
OMIM:225320 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:329224 |
| Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Abnormal mitral valve morphology, Stroke, Myocardial infarction, Ventricular hyp... |
ORPHA:740 |
| Cardiofaciocutaneous Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Lymphedema, Abnormal heart valve morphology, Hypertrophi... |
ORPHA:1340 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Mitral regurgitation, Abdominal aortic aneurysm, Aortic arch aneurysm, Aor... |
OMIM:617168 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Transaldolase Deficiency |
|
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:606003 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| 20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect |
ORPHA:261295 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618870 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Aortic regurgitation, Renovascular hypertension |
ORPHA:401923 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Camptodactyly, Ventricular septal defect, Aortic root... |
OMIM:301039 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... |
ORPHA:75249 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:617751 |
| Developmental And Epileptic Encephalopathy 90 |
|
Limb hypertonia, Atrial septal defect |
OMIM:301058 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Decreased ci... |
OMIM:219080 |
| Apert Syndrome |
|
Ventricular septal defect, Overriding aorta |
OMIM:101200 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Charge Syndrome |
|
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Pulmonic sten... |
OMIM:214800 |
| Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:258450 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortica... |
ORPHA:404 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Mend Syndrome |
|
Limb hypertonia, Aortic valve stenosis, Abnormal heart morphology |
ORPHA:401973 |
| Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse, Pulmonary arterial hypertension, Stillbirth |
OMIM:309350 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Tricuspid valve prolapse, Diastasis recti, Atrial septal defect, Tricuspid regurgitation, Mitral ... |
OMIM:601776 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortica... |
ORPHA:403 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Atrial septal defect |
ORPHA:261272 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Coarctatio... |
ORPHA:353281 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Polyhydramnios, Atrial septal defect |
OMIM:611087 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... |
ORPHA:488618 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Right ventricular hypertrophy, Dehydration, Ventricular septal defect, Pate... |
OMIM:208085 |
| Okamoto Syndrome |
|
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... |
ORPHA:2729 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Aortic a... |
OMIM:182250 |
| Leopard Syndrome 1 |
|
Bundle branch block, Pulmonic stenosis, Third degree atrioventricular block, Subvalvular aortic s... |
OMIM:151100 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
| Trichohepatoenteric Syndrome 1 |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Aortic regurgi... |
OMIM:222470 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
| Cardiofaciocutaneous Syndrome 1 |
|
Pulmonic stenosis, Polyhydramnios, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:115150 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Camptodactyly |
OMIM:618529 |
| Dohle Bodies And Leukemia |
|
