Gene: Myh6 MGI:97255

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

myosin, heavy polypeptide 6, cardiac muscle, alpha

Synonyms:

alphaMHC, alpha cardiac MHC, alpha-MHC, Myhc-a, alpha myosin, Myhca, cardiomyopathy, hypertrophic 1, A830009F23Rik

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 Myh6 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 Myh6 (6 diseases)
Human diseases predicted to be associated with Myh6 (986 diseases)

The table below shows human diseases associated to Myh6 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Ee	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent...	OMIM:613251
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Atrial Septal Defect, Ostium Secundum Type	Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati...	ORPHA:99103
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089

The table below shows human diseases predicted to be associated to Myh6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Cardiomyopathy, Dilated, 2A	Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e...	OMIM:611880
Cardiomyopathy, Dilated, 1M	Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f...	OMIM:607482
Cardiomyopathy, Dilated, 1Ee	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613252
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth...	OMIM:613424
Cardiomyopathy, Dilated, 1Dd	Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca...	OMIM:613172
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:613286
Cardiomyopathy, Dilated, 1Z	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy	OMIM:611879
His Bundle Tachycardia	Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy	ORPHA:3283
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy	OMIM:609909
Cardiomyopathy, Familial Restrictive, 1	Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar...	OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy	OMIM:607487
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Dilated, 1L	Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre...	OMIM:606685
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red...	OMIM:604765
Cardiomyopathy, Dilated, 1U	Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat...	OMIM:613694
Cardiomyopathy, Dilated, 1J	Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi...	OMIM:605362
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul...	OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Left Ventricular Noncompaction 10	Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ...	OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure	ORPHA:217622
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ...	OMIM:615248
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di...	OMIM:612158
Cardiomyopathy, Dilated, 3B	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:302045
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ...	OMIM:613642
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card...	OMIM:600884
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve...	OMIM:615373
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 21	Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat...	OMIM:614676
Cardiomyopathy, Dilated, 1Bb	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:612877
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom...	OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 8	Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w...	OMIM:608751
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent...	OMIM:613251
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car...	OMIM:608569
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom...	OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial...	OMIM:613874
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Left Ventricular Noncompaction 1	Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr...	OMIM:604169
Cardiomyopathy, Dilated, 1V	Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio...	OMIM:613697
Heart-Hand Syndrome, Slovenian Type	Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod...	ORPHA:168796
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ...	OMIM:611615
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy	OMIM:107970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert...	OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 16	Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper...	OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 15	Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent...	OMIM:613255
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,...	OMIM:608099
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Danon Disease	Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red...	OMIM:300257
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia	ORPHA:1479
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc...	OMIM:619903
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat...	OMIM:610476
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 1	Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia	OMIM:192600
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Cardiomyopathy, Dilated, 1G	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre...	OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,...	OMIM:608758
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f...	ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ...	OMIM:613873
Cardiomyopathy, Dilated, 2G	Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray...	OMIM:619897
Myopathy, Distal, 1	Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur...	OMIM:160500
Cardiomyopathy, Familial Hypertrophic, 28	Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct...	OMIM:619402
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D...	OMIM:601494
Heart Block, Congenital	Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse...	OMIM:234700
Loeffler Endocarditis	Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-...	ORPHA:75566
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,...	OMIM:615184
Cardiomyopathy, Dilated, 2F	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype...	OMIM:613690
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc...	OMIM:300718
Cardiomyopathy, Dilated, 1Nn	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc...	OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 11	Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris...	OMIM:612098
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Arrhythmia	ORPHA:3193
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus...	OMIM:612937
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:79281
Atrial Standstill 1	Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy...	OMIM:108770
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Dpm3-Cdg	Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes...	ORPHA:263494
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven...	ORPHA:206546
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo...	OMIM:601419
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ...	OMIM:300580
Atrial Fibrillation, Familial, 10	Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad...	OMIM:614022
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta...	OMIM:611705
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl...	ORPHA:206559
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ...	OMIM:609200
Cardiomyopathy, Dilated, 2D	Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef...	OMIM:619371
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos...	OMIM:616827
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst...	OMIM:604772
Incessant Infant Ventricular Tachycardia	Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W...	ORPHA:45453
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri...	ORPHA:85451
Sick Sinus Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve...	OMIM:163800
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy	OMIM:619492
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Muscular Dystrophy, Becker Type	Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy	OMIM:300376
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Cardiomyopathy, Dilated, 1E	Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti...	OMIM:601154
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ...	ORPHA:171442
Familial Dilated Cardiomyopathy	Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy...	ORPHA:217607
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy	OMIM:602541
Cardiomyopathy, Familial Hypertrophic, 12	Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop...	OMIM:612124
Atrial Fibrillation, Familial, 15	Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri...	OMIM:615770
Atrial Standstill	Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa...	ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre...	OMIM:604400
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Tropical Endomyocardial Fibrosis	Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona...	ORPHA:75565
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Limb-girdle muscle weakness, Right bundle branch block, Right axis deviation, Centrally nucleated...	OMIM:255160
Myopathy, Distal, 4	Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal...	OMIM:614065
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti...	ORPHA:59135
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro...	ORPHA:603
Gne Myopathy	Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger...	ORPHA:602
Cardiomyopathy, Dilated, 1Y	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas...	OMIM:611878
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber...	OMIM:619424
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi...	ORPHA:63273
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Congestive heart failure	OMIM:605676
Fixed Subaortic Stenosis	Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou...	ORPHA:3092
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio...	OMIM:618052
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles	OMIM:609500
Familial Dyskinesia And Facial Myokymia	Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia	ORPHA:324588
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr...	OMIM:108900
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh...	OMIM:115200
Ventricular Tachycardia, Familial	Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy	OMIM:192605
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s...	OMIM:612422
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Myopathy, Distal, 7, Adult-Onset, X-Linked	Increased variability in muscle fiber diameter, Myofiber disarray, Fatty replacement of skeletal ...	OMIM:301075
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro...	OMIM:252011
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet...	OMIM:618654
Long Qt Syndrome 15	Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula...	OMIM:616249
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ...	OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 6	Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges...	OMIM:600858
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he...	OMIM:616117
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Long Qt Syndrome 13	Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e...	OMIM:613485
Congenital Aortic Valve Stenosis	Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,...	ORPHA:3093
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le...	OMIM:115000
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens...	OMIM:540000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle...	OMIM:618920
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:612999
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Nemaline ...	OMIM:161800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy	OMIM:618815
Myofibrillar Myopathy 10	Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype...	OMIM:619040
Hemochromatosis, Type 2A	Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy	OMIM:602390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib...	OMIM:609040
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Limb-girdle muscle weakness, Weakness of long finger extensor muscles, Wrist drop, Weakness of th...	ORPHA:98912
Congenital Left Ventricular Aneurysm	Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:617713
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Hepatomegaly, Br...	OMIM:619048
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Difficulty walking, Distal lower limb muscle weakness, Leg muscle st...	ORPHA:320360
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Distal Nebulin Myopathy	Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i...	ORPHA:399103
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Abnormal EKG, Cardiomyopathy	OMIM:309930
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ...	ORPHA:86812
Congenital Heart Defects, Multiple Types, 3	Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog...	OMIM:614954
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr...	ORPHA:300751
Peripartum Cardiomyopathy	Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at...	ORPHA:563
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ...	OMIM:615959
Myopathy, X-Linked, With Postural Muscle Atrophy	Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor...	OMIM:300696
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Periarticular calcification, Pericardial effusion, Hepatic calcification...	ORPHA:51608
Cardiomyopathy, Familial Hypertrophic, 26	Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi...	OMIM:617047
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm...	ORPHA:1345
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef...	OMIM:613426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy...	OMIM:608807
Atrial Fibrillation, Familial, 9	Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f...	OMIM:613980
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S...	ORPHA:437572
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy	OMIM:604401
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit...	OMIM:616201
Muscular Dystrophy, Progressive Pectorodorsal	Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia	OMIM:310095
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ...	OMIM:255310
Distal Myotilinopathy	Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal...	ORPHA:98911
Myopathy, Distal, Tateyama Type	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ...	OMIM:614321
Coronary Arterial Fistula	Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte...	ORPHA:2041
Atrial Septal Defect 6	Bradycardia, Atrial fibrillation, Atrial septal defect	OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 2	Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul...	OMIM:115195
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath...	ORPHA:272
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragg...	ORPHA:1349
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Right bundle branch block, T-wave inversion, Vent...	ORPHA:263297
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia	OMIM:614896
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge...	OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a...	OMIM:115197
Long Qt Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched...	OMIM:613688
Brugada Syndrome 1	Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc...	OMIM:601144
Mitochondrial Dna Depletion Syndrome 11	Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl...	OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 13	Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca...	OMIM:613243
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia	OMIM:606703
Brugada Syndrome	Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven...	ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,...	OMIM:614021
Wolff-Parkinson-White Syndrome	Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul...	OMIM:194200
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra...	OMIM:310300
Combined Oxidative Phosphorylation Deficiency 23	Arrhythmia, Congestive heart failure, Cardiomyopathy	OMIM:616198
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,...	OMIM:617222
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc...	OMIM:619167
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy	OMIM:255100
Atrial Septal Defect, Sinus Venosus Type	Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl...	ORPHA:99105
Propionic Acidemia	Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Arrhythmia	ORPHA:35
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Noncompaction cardiomyop...	OMIM:610198
Tibial Muscular Dystrophy	Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea...	ORPHA:609
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy	OMIM:618235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar...	OMIM:610193
Long Qt Syndrome 6	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong...	OMIM:613693
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi...	OMIM:617280
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip...	OMIM:607598
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont...	ORPHA:98855
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h...	ORPHA:399086
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,...	ORPHA:399058
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy	OMIM:609308
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia	ORPHA:871
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont...	ORPHA:98853
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re...	ORPHA:57777
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali...	OMIM:615418
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Hemochromatosis Type 2	Dilated cardiomyopathy	ORPHA:79230
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation	OMIM:615377
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Mitral regurgitation, Dilated cardiomyopathy	OMIM:212112
Glycogen Storage Disease Xv	Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi...	OMIM:613507
Familial Isolated Restrictive Cardiomyopathy	Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,...	ORPHA:75249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr...	OMIM:607450
Long Qt Syndrome 16	Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,...	OMIM:618782
Naxos Disease	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph...	OMIM:601214
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Rhabdomyolysis, Ankle flexion contracture	OMIM:618120
Muscular Dystrophy, Duchenne Type	Knee flexion contracture, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Abnor...	OMIM:310200
Leber Hereditary Optic Neuropathy	Ataxia, Retinal telangiectasia, Myopathy, Arrhythmia, Ventricular preexcitation	ORPHA:104
Atrial Fibrillation, Familial, 4	Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ...	OMIM:611493
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:617228
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Combined Oxidative Phosphorylation Defect Type 23	Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric...	ORPHA:444013
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Attrv30M Amyloidosis	Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy	ORPHA:85447
Megabladder, Congenital	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,...	OMIM:618719
Myotonia Congenita, Autosomal Dominant	Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic...	OMIM:160800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol...	OMIM:619566
Congenital Gerbode Defect	Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa...	ORPHA:99095
Familial Atrial Myxoma	Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my...	ORPHA:615
Isolated Succinate-Coq Reductase Deficiency	Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Noncompaction cardiomy...	ORPHA:3208
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Isolated Right Ventricular Hypoplasia	Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno...	ORPHA:439
Desminopathy	Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges...	ORPHA:98909
Idiopathic/Heritable Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita...	ORPHA:422
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac...	OMIM:614916
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Arrhyth...	ORPHA:352447
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis	OMIM:607685
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Calf muscle hypertrophy, Achilles tendon contracture, Congenital muscular dystrophy, Macroglossia...	OMIM:607155
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Ebstein Malformation Of The Tricuspid Valve	Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Abnormal cardiac se...	ORPHA:1880
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Hepatic necrosis, Dilated cardiomyopathy	OMIM:231530
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec...	OMIM:614980
Dk1-Cdg	Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy...	ORPHA:91131
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy	OMIM:606842
Arterial Calcification, Generalized, Of Infancy, 2	Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear...	OMIM:614473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro...	OMIM:613156
Atrial Septal Defect, Ostium Primum Type	Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,...	ORPHA:99106
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Dilated cardiomyopathy	OMIM:618805
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua...	ORPHA:206549
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Aortic Arch Interruption	Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus...	ORPHA:2299
Dystonia 23	Torticollis, Gait disturbance, Arrhythmia	OMIM:614860
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,...	OMIM:609452
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Loss of ...	OMIM:616516
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy	OMIM:145350
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Left ventricular hypertrophy	OMIM:614654
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom...	OMIM:615352
Long Qt Syndrome 9	Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br...	OMIM:611818
Jervell And Lange-Nielsen Syndrome 1	Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval	OMIM:220400
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Ventricular septal defect, Hypertension, Arrhythmia	OMIM:617021
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Left ventricular hypertrophy, Hypertension	OMIM:616733
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra...	OMIM:615441
Paramyotonia Congenita Of Von Eulenburg	Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m...	ORPHA:684
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyopathy, Congestive heart f...	ORPHA:367
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract...	ORPHA:353
Shwachman-Diamond Syndrome 1	Myocardial necrosis	OMIM:260400
Nemaline Myopathy 11, Autosomal Recessive	Facial palsy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree a...	OMIM:617336
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma...	ORPHA:45452
Ebstein Anomaly	Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s...	OMIM:224700
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Arrhythmia	OMIM:618453
Congenitally Uncorrected Transposition Of The Great Arteries	Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp...	ORPHA:860
Maternally-Inherited Diabetes And Deafness	Hypertension, Congestive heart failure, Ataxia, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:225
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Ischemic stroke, Dilated cardiomyopathy, Cerebral hemorrhage	ORPHA:280679
Polymyositis	Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Abnormal muscle fiber mor...	ORPHA:732
Noonan Syndrome 8	Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi...	OMIM:615355
Cardiac Diverticulum	Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent...	ORPHA:1686
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Ventricular tachycardia, Syncope, Dilated cardiomyopathy	OMIM:615821
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa...	OMIM:620135
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Cardiomyopathy	ORPHA:1909
Long Qt Syndrome 1	Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,...	OMIM:192500
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Hypertension, Ataxia, Arrhythmia	ORPHA:3222
Familial Short Qt Syndrome	Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At...	ORPHA:51083
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno...	OMIM:608358
Partial Atrioventricular Septal Defect	Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor...	ORPHA:1330
Progressive Familial Heart Block, Type Ib	Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f...	OMIM:604559
Distal Myopathy, Tateyama Type	Increased variability in muscle fiber diameter, Percussion-induced rapid rolling muscle contracti...	ORPHA:488650
Naxos Disease	Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C...	ORPHA:34217
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Intellectual Developmental Disorder With Cardiac Arrhythmia	Bradycardia, Sick sinus syndrome, Arrhythmia	OMIM:617173
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal left ventricle morphology, Dilated cardiomyopathy, Cerebral hemorrhage	OMIM:300845
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ...	OMIM:615616
Short Qt Syndrome 1	Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at...	OMIM:609620
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct...	ORPHA:99094
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Cerebellar hemorrhage, Dilated cardiomyopathy, Congestive heart failure, EM...	ORPHA:99901
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension	ORPHA:401923
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ...	OMIM:616812
Brugada Syndrome 9	Presyncope, Palpitations, Prolonged QT interval, ST segment elevation	OMIM:616399
Acquired Aneurysmal Subarachnoid Hemorrhage	Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left ventricular hypertrophy, C...	ORPHA:90065
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr...	ORPHA:216694
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy	OMIM:105120
Cardiac Valvular Dysplasia 2	Subvalvular aortic stenosis, Systolic heart murmur, Pulmonary insufficiency, Left ventricular dia...	OMIM:620067
Long Qt Syndrome 14	T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT...	OMIM:616247
Complete Atrioventricular Septal Defect	Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir...	ORPHA:1329
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric...	ORPHA:169186
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia	OMIM:611938
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy	OMIM:611126
Refsum Disease, Classic	Congestive heart failure, Ataxia, Arrhythmia, Cardiomegaly, Limb muscle weakness, Decreased phyta...	OMIM:266500
Tangier Disease	Left ventricular hypertrophy, Facial diplegia, Myocardial infarction, Hepatomegaly, Distal amyotr...	OMIM:205400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Gait disturbance, Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia	ORPHA:99944
Atrial Standstill 2	Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr...	OMIM:615745
Barth Syndrome	Endocardial fibroelastosis, Skeletal myopathy, Dilated cardiomyopathy, Increased left ventricular...	OMIM:302060
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula...	OMIM:615474
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp...	ORPHA:555874
Long Qt Syndrome 5	Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv...	OMIM:613695
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact...	OMIM:616501
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Tricuspid r...	OMIM:619433
Familial Idiopathic Dilatation Of The Right Atrium	Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal...	ORPHA:1677
Jervell And Lange-Nielsen Syndrome 2	Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q...	OMIM:612347
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Pulmonary Hypertension, Primary, 5	Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure, Right ventr...	OMIM:265400
Amoebiasis Due To Free-Living Amoebae	Arrhythmia, Myocardial necrosis, Facial palsy	ORPHA:68
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Carnitine Palmitoyl Transferase 1A Deficiency	Sudden cardiac death, Hepatic failure, Elevated hepatic transaminase, Hypertrophic cardiomyopathy...	ORPHA:156
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy	ORPHA:91130
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Brugada Syndrome 3	Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr...	OMIM:611875
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon...	ORPHA:398124
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos...	ORPHA:308552
Mcleod Syndrome	Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy	OMIM:300842
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Arrhythmogenic right ventricular dysplasia, familial, 2	Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ...	OMIM:600996
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Atrial Fibrillation, Familial, 7	Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval...	OMIM:612240
Polyvalvular Heart Disease Syndrome	Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon...	ORPHA:228410
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc...	OMIM:253700
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte...	ORPHA:251274
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Gait disturbance, Congestive heart failure, Myopathy, Skeletal muscle atroph...	ORPHA:157973
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy	OMIM:618236
Tako-Tsubo Cardiomyopathy	Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris...	ORPHA:66529
Intermediate Nemaline Myopathy	Cardiomyopathy, Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodi...	ORPHA:171433
Fabry Disease	Transient ischemic attack, Left ventricular hypertrophy, Angina pectoris, Ventricular septal hype...	OMIM:301500
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co...	ORPHA:99104
Long Qt Syndrome 12	Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation	OMIM:612955
Neutral Lipid Storage Disease With Myopathy	Increased muscle lipid content, Myopathy, Hepatomegaly, Cardiomyopathy	OMIM:610717
Timothy Syndrome	Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o...	OMIM:601005
Atrial Septal Defect, Ostium Secundum Type	Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati...	ORPHA:99103
Chromosome 1P36 Deletion Syndrome, Proximal	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul...	OMIM:619343
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616276
Myotonia Congenita, Autosomal Recessive	Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs	OMIM:255700
Cln3 Disease	T-wave inversion, Bradycardia, Left ventricular hypertrophy	ORPHA:228346
Ataxia With Vitamin E Deficiency	Dysdiadochokinesis, Gait disturbance, Ataxia, Hypertrophic cardiomyopathy, Dysmetria, Skeletal mu...	ORPHA:96
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Symmetrical Thalamic Calcifications	Ataxia, Arrhythmia	ORPHA:1314
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Short Qt Syndrome 7	Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation	OMIM:620231
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo...	ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Cardiomyopathy	OMIM:615119
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left ventricular h...	ORPHA:746
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy	OMIM:613752
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Ventricular hypertrophy, Rhabdom...	ORPHA:228305
Hemochromatosis, Type 2B	Splenomegaly, Congestive heart failure, Hepatomegaly, Cardiomyopathy	OMIM:613313
Congenital Fibrinogen Deficiency	Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage	ORPHA:335
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Atrial septal defect, Ataxia, Situs inversus totalis, Arrhythmia, Card...	OMIM:249270
Long Qt Syndrome 8	Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ...	OMIM:618447
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Myopathy	ORPHA:1369
Congenital Disorder Of Glycosylation, Type Ik	Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy	OMIM:608540
Collagenoma, Familial Cutaneous	Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu...	OMIM:115250
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Long Qt Syndrome 3	Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ...	OMIM:603830
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Patent foramen ovale, Right ventricular hypertrophy, Right atria...	OMIM:616028
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop...	OMIM:608810
Glycogen Storage Disease Iii	Ventricular hypertrophy, Myopathy, Hepatomegaly, Distal amyotrophy, Cardiomyopathy	OMIM:232400
Mitochondrial Trifunctional Protein Deficiency 1	Rhabdomyolysis, Dilated cardiomyopathy, Congestive heart failure, Myopathy, Arrhythmia	OMIM:609015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc...	OMIM:613155
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly	OMIM:208000
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Duchenne Muscular Dystrophy	Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy, Calf muscle hypertrophy	ORPHA:98896
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox...	OMIM:614302
Gm1-Gangliosidosis, Type I	Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal heart valve morphology, Dilated c...	OMIM:230500
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:99725
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy	ORPHA:70595
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Muscular dystrophy, Left ventricular hypertrophy	OMIM:613153
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea...	ORPHA:119
X-Linked Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio...	ORPHA:98863
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly	OMIM:619064
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur...	ORPHA:49827
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu...	ORPHA:34516
Infantile Sialic Acid Storage Disease	Cardiomegaly, Congestive heart failure, Splenomegaly, Hepatomegaly	OMIM:269920
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Ven...	OMIM:300952
Carnitine Deficiency, Systemic Primary	Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi...	OMIM:212140
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hepatic necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Pro...	ORPHA:71212
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy	OMIM:619003
Romano-Ward Syndrome	Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo...	ORPHA:101016
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Cardiomyopathy, Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Lower limb hype...	ORPHA:1177
Thomsen And Becker Disease	Myotonia	ORPHA:614
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega...	OMIM:619051
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Cardiomegaly, Elevated hepatic transaminase, Ataxia, Myopathy, Skeletal mu...	ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, ...	OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618228
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina...	OMIM:212138
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ...	ORPHA:555877
Congenital Disorder Of Glycosylation, Type It	Sudden cardiac death, Pulmonary arterial hypertension, Rhabdomyolysis, Ventricular septal defect,...	OMIM:614921
Kallmann Syndrome-Heart Disease Syndrome	Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Con...	ORPHA:2326
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
X-Linked Intellectual Disability, Hedera Type	Hypomimic face, Left ventricular hypertrophy	ORPHA:93952
Immune-Mediated Necrotizing Myopathy	Raynaud phenomenon, Congestive heart failure, EMG: myopathic abnormalities, Myositis, Muscle fibe...	ORPHA:206569
Glycogen Storage Disease Due To Aldolase A Deficiency	Reduced circulating aldolase concentration, Decreased muscle mass, Skeletal myopathy, Muscle fibe...	ORPHA:57
Paramyotonia Congenita Of Von Eulenburg	Paradoxical myotonia, Handgrip myotonia, Percussion myotonia	OMIM:168300
Nephronophthisis 16	Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulm...	OMIM:615382
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Gait disturbance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Bradycardia, Arrhythmia...	OMIM:609286
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ...	ORPHA:542306
Short Qt Syndrome 2	Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri...	OMIM:609621
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Hypertrophic cardio...	OMIM:300280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Dilated cardiomyopat...	OMIM:253800
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Macr...	OMIM:261740
Myopathy, Myofibrillar, 6	Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop...	OMIM:612954
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Ele...	ORPHA:330001
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,...	ORPHA:37553
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra...	ORPHA:324410
Cantu Syndrome	Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve	OMIM:239850
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva...	OMIM:255120
Zebra Body Myopathy	Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi...	ORPHA:97240
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V...	OMIM:618619
Sick Sinus Syndrome 1	Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin...	OMIM:608567
Rheumatic Fever	Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve morphol...	ORPHA:3099
Brugada Syndrome 6	Cardiac arrest, Ventricular fibrillation, ST segment elevation	OMIM:613119
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia	OMIM:614702
Cardiac-Valvular Ehlers-Danlos Syndrome	Pulmonary insufficiency, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defec...	ORPHA:230851
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Calf muscle ...	ORPHA:268
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Generalized amyotrophy, Dilated cardiomyopathy, Prolonged QT interval,...	ORPHA:66634
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Skeletal myopathy, Abnormality of the calf musculature, Abnormality of ...	ORPHA:565612
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re...	OMIM:618652
Aorta Coarctation	Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ...	ORPHA:1457
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Brugada Syndrome 2	Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr...	OMIM:611777
Hemochromatosis, Type 1	Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C...	OMIM:235200
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Hurler-Scheie Syndrome	Splenomegaly, Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy	ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Hec Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia	ORPHA:2119
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener...	OMIM:607459
Oculopharyngodistal Myopathy 1	Increased variability in muscle fiber diameter, Paroxysmal atrial fibrillation, Autophagic vacuol...	OMIM:164310
Hemochromatosis, Type 4	Arrhythmia, Hepatomegaly, Cardiomyopathy	OMIM:606069
Atypical Juvenile Parkinsonism	Gait ataxia, Shuffling gait, Akinesia, Inability to walk, Short stepped shuffling gait, Hypomimic...	ORPHA:391411
Normokalemic Periodic Paralysis	Percussion myotonia	OMIM:170600
Congenital Disorder Of Glycosylation, Type Im	Bradycardia, Dilated cardiomyopathy	OMIM:610768
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy, Cardiomyopathy	ORPHA:26792
Mucopolysaccharidosis, Type X	Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert...	OMIM:619698
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616277
Sengers Syndrome	Hypertrophic cardiomyopathy, Myopathy	OMIM:212350
Sick Sinus Syndrome 4	Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,...	OMIM:619464
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Duchenne And Becker Muscular Dystrophy	Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy	ORPHA:262
Mulibrey Nanism	Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly	OMIM:253250
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ...	ORPHA:1194
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Flexion contracture, Myopathy	OMIM:618237
Noonan Syndrome 10	Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ...	OMIM:616564
Mitochondrial Complex I Deficiency, Nuclear Type 7

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