Gene: Hey2 MGI:1341884

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

hairy/enhancer-of-split related with YRPW motif 2

Synonyms:

bHLHb32, CHF1, Herp1, Hesr2, Hrt2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hey2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Hey2 (1 diseases)
Human diseases predicted to be associated with Hey2 (2220 diseases)

The table below shows human diseases associated to Hey2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection		Aortic regurgitation, Paroxysmal dyspnea, Transient ischemic attack, Ischemic stroke, Cardiomegal...	ORPHA:91387

The table below shows human diseases predicted to be associated to Hey2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu...	OMIM:611556
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Recurrent respiratory infections, Hypertrophic cardiomyopathy...	ORPHA:75249
Criss-Cross Heart	Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep...	ORPHA:1461
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert...	OMIM:620236
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Tachypnea, Arrhythmia, Orthopnea, Atrial septal def...	ORPHA:2041
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ...	OMIM:185500
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Hepatomegaly, P...	ORPHA:422
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy	OMIM:115210
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Orthopnea, Systolic heart...	ORPHA:3092
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Ortho...	ORPHA:563
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ...	OMIM:249670
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Ascites, Pleural effusio...	ORPHA:2414
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro...	ORPHA:228410
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Ethanolaminosis	Cardiomegaly	OMIM:227150
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus	ORPHA:1208
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Portal ...	OMIM:619433
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Tricu...	OMIM:212093
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric...	OMIM:314400
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Congenital Gerbode Defect	Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en...	ORPHA:99095
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri...	ORPHA:99106
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m...	ORPHA:1354
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Hypoplastic left heart, Bacte...	ORPHA:1330
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Cirrhotic Cardiomyopathy	Pulmonary edema, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Jaundice,...	ORPHA:57777
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Weill-Marchesani Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Short stature, Pulmonic s...	ORPHA:3449
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Orthopnea, Right atrial enlar...	ORPHA:99103
Geleophysic Dysplasia 2	Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Pulmonary ar...	OMIM:614185
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I...	OMIM:611880
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Left v...	OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Double Outlet Left Ventricle	Systolic heart murmur, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmona...	ORPHA:3427
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi...	OMIM:620067
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas...	OMIM:619048
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation	OMIM:615377
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu...	OMIM:616501
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr...	OMIM:613876
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho...	ORPHA:555874
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Tricuspid regurgitation, Intrauterine growth retardation, Mitral valve prol...	OMIM:612863
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right v...	OMIM:253700
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def...	OMIM:619170
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Lymphoid Interstitial Pneumonia	Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia	OMIM:247610
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula...	OMIM:620609
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Tricuspid regurgita...	OMIM:619167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Atrioventricular canal defect, Tricuspid regurgitation, Congenital diaphr...	ORPHA:1120
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins...	OMIM:619705
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Elev...	OMIM:212140
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart	OMIM:241550
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Williams-Beuren Syndrome (WBS)	Aortic valve stenosis, Short stature	DECIPHER:3
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard...	OMIM:261740
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L...	OMIM:615355
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Diaphragmatic eventration, Generalized amyotrophy...	OMIM:616866
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Pedal edema, Systo...	ORPHA:2299
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial...	OMIM:613874
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus...	ORPHA:555877
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Pulmonary edema, Orthopnea, Atrial septal defect, Tachycardia,...	ORPHA:980
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Intrauterine growt...	OMIM:619051
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Familial Idiopathic Dilatation Of The Right Atrium	Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation...	ORPHA:1677
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa...	OMIM:614823
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Mitral Valve Prolapse 1	Mitral regurgitation, Mitral valve prolapse	OMIM:157700
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular...	OMIM:616276
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse	OMIM:225320
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver...	OMIM:615382
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,...	ORPHA:363705
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Edema, Hepatic fai...	ORPHA:100078
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventri...	ORPHA:97287
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Cholestasis, Pl...	OMIM:620233
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Myopathy, Myofibrillar, 6	Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Hypertrophic cardiomy...	OMIM:612954
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Camurati-Engelmann Disease, Type 2	Skeletal muscle atrophy, Mitral regurgitation, Hip contracture, Mitral valve prolapse, Knee flexi...	OMIM:606631
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At...	OMIM:224700
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,...	ORPHA:99104
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ...	OMIM:615415
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox...	OMIM:253300
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Atrial Septal Defect 9	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect	OMIM:614475
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p...	OMIM:178600
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Short stature, Pulmonic stenosis	OMIM:614819
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Hypersplenism, Mitral regurgitation, Splenomegaly, Hepatomegaly...	OMIM:230800
Optic Atrophy 8	Mitral regurgitation, Mitral valve prolapse	OMIM:616648
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr...	OMIM:208530
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri...	OMIM:612561
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase...	OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Tendon rupture, M...	ORPHA:230851
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Congestive heart failure, Camptodactyly of ...	OMIM:231050
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Oligohydramnios, Polyhydramnios, Atrial septal defect	OMIM:615476
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Apnea, Bradycardia, Ventricular septal defect	OMIM:616277
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste...	OMIM:614300
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Aortic regurgitation	ORPHA:98892
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Respiratory distress, Myopathy, Type 1 fibers relatively smaller than typ...	OMIM:300580
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul...	OMIM:613759
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax	OMIM:619825
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul...	ORPHA:99094
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure...	ORPHA:3093
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Sonoda Syndrome	Short stature, Ventricular septal defect	OMIM:270460
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con...	OMIM:615959
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven...	OMIM:615616
Adams-Oliver Syndrome 6	Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Truncus arteriosus,...	OMIM:616589
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:220210
Eng-Strom Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Abnormal car...	ORPHA:1937
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus ...	OMIM:601927
Classic Multiminicore Myopathy	Muscular dystrophy, Right ventricular failure, Congestive heart failure, Nocturnal hypoventilatio...	ORPHA:324604
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co...	ORPHA:88630
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse	OMIM:609008
Idiopathic Pulmonary Arterial Hypertension	Edema of the dorsum of feet, Congestive heart failure, Tricuspid regurgitation, Palpitations, Inc...	ORPHA:275766
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Pos...	ORPHA:423461
Alagille Syndrome 2	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu...	OMIM:610205
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Short stature, Renovascular ...	ORPHA:401923
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Facial hypotonia, Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse, Camptodactyly	OMIM:615539
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph...	ORPHA:2257
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Keutel Syndrome	Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp...	ORPHA:85202
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Rhizomelia, Camptodactyly o...	OMIM:143095
Scheie Syndrome	Aortic valve stenosis, Aortic regurgitation, Mitral stenosis	OMIM:607016
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve...	ORPHA:3304
Combined Oxidative Phosphorylation Deficiency 23	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt...	OMIM:616198
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegal...	OMIM:620642
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Paget Disease Of Bone 6	Left ventricular hypertrophy, Coronary artery atherosclerosis	OMIM:616833
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defec...	OMIM:600987
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Palpitations, Syncope, Dyspnea, Sudden ...	OMIM:610476
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis	OMIM:618499
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Conge...	OMIM:615440
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure	ORPHA:2022
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Hypotension, Elevated circulating hepatic transaminase ...	ORPHA:100080
Mungan Syndrome	Tricuspid regurgitation, Perimembranous ventricular septal defect, Hypoperistalsis, Pulmonic sten...	OMIM:611376
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ...	OMIM:618870
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin...	OMIM:620300
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Ascites, Mitral regurgitation, Mitral valve prolapse, Camptodactyly of t...	ORPHA:2848
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e...	OMIM:614702
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Ch...	ORPHA:746
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Apnea, Bradycardia, Hepatomegaly, Cardiac arrest	OMIM:618235
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexion contracture, Hydrops fe...	OMIM:618815
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Familial Aortic Dissection	Aortic regurgitation, Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea, Abnormal left ventric...	ORPHA:229
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:7
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat...	ORPHA:70589
Right Ventricular Hypoplasia, Isolated	Hypoplasia of right ventricle	OMIM:277200
Systemic Capillary Leak Syndrome	Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Pancreatitis, Myocarditis, Pedal edem...	ORPHA:188
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Pulmonic stenosis	OMIM:264140
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Mitral regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:615879
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral stenosis, Mi...	OMIM:616564
8p23.1 deletion syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula...	DECIPHER:39
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu...	ORPHA:2326
Mucolipidosis Iii Gamma	Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Finger joint contracture, Shoul...	OMIM:252605
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Limb hypertonia, Pulmo...	OMIM:620306
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora...	ORPHA:199241
Feingold Syndrome Type 1	Abnormal heart morphology, Multiple muscular ventricular septal defects, Short stature, Tricuspid...	ORPHA:391641
Pulmonary Hypertension, Primary, 5	Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr...	OMIM:265400
Rhizomelic Syndrome	Pulmonic stenosis	OMIM:268250
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Apnea, Cardiomyopathy	OMIM:600721
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Tachypnea, Elevat...	ORPHA:1329
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Skeletal muscle atrophy, Short stature, Flexion contracture, Growth delay,...	ORPHA:75496
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu...	OMIM:616749
Cardiospondylocarpofacial Syndrome	Severe short stature, Mitral regurgitation, Mitral valve prolapse	ORPHA:3238
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal...	ORPHA:2847
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Respiratory distress, Tetralogy ...	ORPHA:210122
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E...	ORPHA:100082
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f...	OMIM:258450
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	ORPHA:75389
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy...	OMIM:617877
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Growth delay, Absence of the pulmonary valv...	ORPHA:1600
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis	OMIM:618205
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis	OMIM:220220
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Hepatic steatosis, V...	ORPHA:254346
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv...	OMIM:615067
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramn...	OMIM:616733
Emanuel Syndrome	Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic...	OMIM:609029
Adams-Oliver Syndrome 5	Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri...	OMIM:616028
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Rhizomelia, Abnormal lung lobation, Intrauterine growth retardation, Ventri...	OMIM:614114
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Left ventricular hypert...	OMIM:619698
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Left ventricul...	OMIM:540000
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Mogs-Cdg	Generalized edema, Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Cardiomegaly...	ORPHA:79330
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Intrauterine growth retardation, Bicuspid aortic valve, Atrial septal defect, Short stature, Recu...	OMIM:617744
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot...	OMIM:619402
Singleton-Merten Syndrome 2	Aortic valve stenosis, Arrhythmia, Short stature, Aortic valve calcification	OMIM:616298
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he...	ORPHA:3400
Metachondromatosis	Pulmonic stenosis	OMIM:156250
Neuroendocrine Neoplasm Of Appendix	Hypotension, Elevated circulating hepatic transaminase concentration, Palpitations, Hepatomegaly,...	ORPHA:100079
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase...	OMIM:610198
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia	ORPHA:2248
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Emphysema, Mitral regur...	ORPHA:363618
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Elbow flexion contracture, Mitral regurgitation, Mitral valve prolapse, V...	OMIM:121050
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hepatic failure, Secundum atrial septal defect, Growth delay, Recurrent respiratory infections, H...	OMIM:619758
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ...	OMIM:123700
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Postnatal growt...	ORPHA:576
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Hypertension, Mitral regurgitation, Mitral valve prolapse	OMIM:173900
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Mitral stenosis, Atrial septal defect, Short stature	OMIM:617660
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Antisynthetase Syndrome	Aortic regurgitation, Xerostomia, Myositis, Pulmonary arterial hypertension, Telangiectasia of th...	ORPHA:81
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Respiratory distress, Situs inversus totalis, Polyhydramnios, Pulm...	OMIM:202650
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Ventricular septal defect, Polyhydramnios, Asple...	OMIM:164280
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis, Secundum atrial septal defect	OMIM:611926
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy	OMIM:615802
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Mulibrey Nanism	Growth delay, Congestive heart failure, Ascites, Intrauterine growth retardation, Cardiomegaly, P...	OMIM:253250
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect	OMIM:620062
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ...	OMIM:618234
Meckel Syndrome, Type 7	Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Oligohydramnios, Situs...	OMIM:267010
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse	ORPHA:309155
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,...	OMIM:614868
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function	OMIM:132900
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy	ORPHA:369847
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary...	OMIM:265380
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Intrauterine grow...	ORPHA:1194
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Noonan Syndrome 9	Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Mitral regurgitation, Proportionate short stature, Supraventricular tach...	ORPHA:404443
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Intrauterine gr...	OMIM:614654
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent respirator...	OMIM:612541
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ...	OMIM:179613
Pontocerebellar Hypoplasia, Type 17	Intrauterine growth retardation, Secundum atrial septal defect, Limb hypertonia, Ventricular sept...	OMIM:619909
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen...	OMIM:617300
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Bicuspid aortic valve, Short stature, Postnatal growth retardation	OMIM:243310
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Branchial Arch Syndrome, X-Linked	Pulmonic stenosis	OMIM:301950
Birk-Aharoni Syndrome	Muscular ventricular septal defect	OMIM:620071
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy...	OMIM:600001
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Skeletal muscle atrophy, Decreased liver function, Congestive hear...	OMIM:608779
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh...	OMIM:602390
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Respiratory distress, Intrauterine growth retardation, Hepatic steatosis, Myopathy	ORPHA:26792
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly...	OMIM:208540
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
Lessel-Kreienkamp Syndrome	Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm...	OMIM:619149
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec...	OMIM:603387
Diamond-Blackfan Anemia 1	Congestive heart failure, Intrauterine growth retardation, Ventricular septal defect, Atrial sept...	OMIM:105650
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cardiac arrest, Pulmonary edema...	ORPHA:70587
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Ventricular septal defect	OMIM:614326
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy, Hypertrophic cardiomyopathy, Low-output congestive heart failure	ORPHA:91130
Craniosynostosis 1	Aortic valve stenosis, Systolic heart murmur	OMIM:123100
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615297
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric...	ORPHA:90308
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification	OMIM:114065
Noonan Syndrome 14	Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Polyh...	OMIM:619745
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Mitral regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:301039
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred...	OMIM:620161
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Secundum atrial septal defect, Facial diplegia, Growth delay	OMIM:619121
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial...	ORPHA:99050
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis	OMIM:269920
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomyopathy	OMIM:105210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular...	ORPHA:1166
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Paroxysmal dyspnea, Transient ischemic attack, Ischemic stroke, Cardiomegal...	ORPHA:91387
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Glycogen Storage Disease Iv	Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hyp...	OMIM:232500
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Ascites, Cholestasis, Intrauterine growth retardation, Oligohydramnios,...	OMIM:608104
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Serkal Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:505248
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro...	OMIM:617168
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Intrauterine gro...	OMIM:601808
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Abnormal ca...	ORPHA:96147
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Rhizomelic arm shortening, Secundum atrial septal defect	ORPHA:96190
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Mitral valve prolapse, Joint hemor...	OMIM:193400
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr...	OMIM:619657
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Camptodactyly, Short stature, Atrial septal defect	ORPHA:459061
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,...	OMIM:181350
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte...	OMIM:617021
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Ventricular septal...	ORPHA:3426
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor...	ORPHA:3097
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu...	ORPHA:100075
Neonatal Marfan Syndrome	Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Emphysema, Mitral regurgitation, ...	ORPHA:284979
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa...	OMIM:212138
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Dilated cardiomyopathy, Skeletal muscle atrophy, Elevated circulating hepatic tr...	ORPHA:367
Dohle Bodies And Leukemia	Secundum atrial septal defect, Lymphedema	OMIM:223350
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Alg9-Cdg	Hypoplasia of the musculature, Periportal fibrosis, Rhizomelia, Abnormal lung lobation, Abnormal ...	ORPHA:79328
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Respiratory distress, Hypertrophic cardi...	OMIM:613561
Meckel Syndrome 14	Hepatic fibrosis, Tricuspid regurgitation, Oligohydramnios, Increased nuchal translucency, Mitral...	OMIM:619879
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Emanuel Syndrome	Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic...	ORPHA:96170
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Mucopolysaccharidosis, Type Vi	Pneumonia, Macroglossia, Recurrent upper respiratory tract infections, Sinus tachycardia, Cardiom...	OMIM:253200
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Asbestos Intoxication	Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis...	ORPHA:2302
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Desminopathy	Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Weaknes...	ORPHA:98909
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Pierre Robin Syndrome	Cor pulmonale	OMIM:261800
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	ORPHA:324588
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi...	ORPHA:206569
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Microcephaly-Capillary Malformation Syndrome	Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:614261
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves...	OMIM:601186
Dk1-Cdg	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart...	ORPHA:91131
ERI1-related disease	Abnormal heart morphology, Tricuspid regurgitation, Intrauterine growth retardation, Ventricular ...	OMIM:608739
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Peripheral pulmonary artery stenosis, Abnormal heart morp...	ORPHA:84064
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart, Skeletal muscle atrophy, Intrauterine growth retar...	ORPHA:261290
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, Secundum atrial septal defect	OMIM:620194
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ...	OMIM:618280
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Congenital Myopathy 11	Atrial septal defect, Patent foramen ovale	OMIM:619967
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regu...	OMIM:607014
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Chylothorax, Lymphedema, Postnatal growth retardation, Hepatosplenomegaly,...	OMIM:613563
Developmental And Epileptic Encephalopathy 109	Intrauterine growth retardation, Left ventricular hypertrophy	OMIM:620145
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle...	ORPHA:1143
Hadziselimovic Syndrome	Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu...	OMIM:612946
Ogden Syndrome	Torsade de pointes, Postnatal growth retardation, Ventricular septal defect, Pulmonary edema, Bic...	OMIM:300855
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia	OMIM:618929
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect	ORPHA:3405
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni...	OMIM:611812
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Ischemic stroke, Congenital...	OMIM:208050
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Recurrent upper respiratory tract infections, Mitral regurgitation, Dispro...	OMIM:253010
Fabry Disease	Mitral regurgitation, Arrhythmia, Achalasia, Lymphedema, Hypertrophic cardiomyopathy, Bundle bran...	ORPHA:324
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:605321
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P...	ORPHA:401935
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Dyspnea, Heart murmur, Edema	ORPHA:1054
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi...	OMIM:617022
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova...	OMIM:609942
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Ogden Syndrome	Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis, Arrhythmia, Torticollis	ORPHA:276432
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Pulmonary artery stenosis, ...	OMIM:620504
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Postnatal growth retardation, Secundum atrial septal defect	OMIM:620242
Li-Campeau Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619189
Tangier Disease	Distal amyotrophy, Atherosclerosis, Facial diplegia, Splenomegaly, Coronary artery atherosclerosi...	OMIM:205400
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract...	OMIM:619461
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Mitral regurgitation, Proportionate short stature, Ventricular septal defe...	OMIM:277600
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ...	ORPHA:363444
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardi...	ORPHA:70472
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Muscular dystrophy, Growth delay, Abnormal lung lobation, Ascites, Intraute...	ORPHA:1052
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growt...	OMIM:612562
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Congestive heart failure, Facial hypotonia, Atrial septal defect, Polyhydr...	ORPHA:500533
Noonan Syndrome 13	Mitral regurgitation, Atrial septal defect, Mitral valve prolapse, Lymphedema	OMIM:619087

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us