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-MHC, alpha cardiac MHC, Myhc-a, Myhca, alpha myosin, 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 (988 diseases)

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	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	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 3B	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:302045
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Left bundle branch...	OMIM:608758
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the...	OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial palsy, Cardiogenic...	OMIM:619424
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	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, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Hemochromatosis, Type 2A	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy	OMIM:602390
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Cardiomyopathy, Difficulty walking, Leg muscle stiffness, Distal low...	ORPHA:320360
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Generalized Arterial Calcification Of Infancy	Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Cardiomega...	ORPHA:51608
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia	OMIM:310095
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Myopathy, Distal, Tateyama Type	Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr...	OMIM:614321
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudde...	OMIM:310300
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac...	OMIM:619167
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Cardiomyopathy, Arrhythmia	ORPHA:35
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:98853
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement	OMIM:615377
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG...	OMIM:615418
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Leber Hereditary Optic Neuropathy	Ataxia, Retinal telangiectasia, Ventricular preexcitation, Myopathy, Arrhythmia	ORPHA:104
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle	OMIM:255100
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Desminopathy	Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop...	ORPHA:98909
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic...	OMIM:160800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis	OMIM:231530
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr...	OMIM:613156
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Dystonia 23	Torticollis, Gait disturbance, Arrhythmia	OMIM:614860
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Arrhythm...	OMIM:616516
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Camptodactyly	OMIM:618453
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Flexion contracture	OMIM:616733
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo...	ORPHA:684
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Shwachman-Diamond Syndrome 1	Myocardial necrosis	OMIM:260400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, F...	ORPHA:367
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Maternally-Inherited Diabetes And Deafness	Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:225
Noonan Syndrome 8	Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:615355
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Ataxia, Hypertension	ORPHA:3222
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Partial Atrioventricular Septal Defect	Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio...	ORPHA:1330
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Tangier Disease	Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr...	OMIM:205400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia, Gait disturbance	ORPHA:99944
Refsum Disease, Classic	Decreased phytanoyl-CoA hydroxylase activity, Ataxia, Cardiomegaly, Congestive heart failure, Car...	OMIM:266500
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Mcleod Syndrome	Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy	OMIM:300842
Familial Atrial Fibrillation	Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Facial palsy	ORPHA:68
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A...	ORPHA:555874
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr...	OMIM:265400
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Hypertr...	ORPHA:156
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi...	ORPHA:228410
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Gait disturbanc...	ORPHA:157973
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Symmetrical Thalamic Calcifications	Arrhythmia, Ataxia	ORPHA:1314
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy, Hepatomegaly	OMIM:610717
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Increased variability in muscle fiber diameter	OMIM:613752
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Arrhythmia, Hyp...	ORPHA:96
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs	OMIM:255700
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P...	ORPHA:26793
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopathy, Myopathy,...	ORPHA:228305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Ataxia, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, ...	OMIM:249270
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy	ORPHA:335
Adams-Oliver Syndrome 5	Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval...	OMIM:616028
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia	OMIM:609015
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy	OMIM:232400
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage	OMIM:300845
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi...	OMIM:614302
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy	OMIM:613153
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98863
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val...	OMIM:230500
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Cardiomegaly, Abnormal lactate de...	ORPHA:42
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Prolonged prothrombin time, Hype...	ORPHA:71212
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyolysis, Ventricul...	OMIM:212138
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M...	ORPHA:555877
Thomsen And Becker Disease	Myotonia	ORPHA:614
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Reduced circulating aldolase concentratio...	ORPHA:57
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Gait disturbance, Bradycardia, Ar...	OMIM:609286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ...	ORPHA:206569
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a...	OMIM:612954
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Elevated circulating alkaline phos...	ORPHA:330001
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Car...	OMIM:255120
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Paramyotonia Congenita	Percussion myotonia, Handgrip myotonia, Paradoxical myotonia	OMIM:168300
Zebra Body Myopathy	Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-gi...	ORPHA:97240
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve...	ORPHA:230851
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormal circulating enzyme concentration or activity, Angina pectoris, Increased muscle lipid co...	ORPHA:565612
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ...	ORPHA:3099
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am...	ORPHA:66634
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m...	OMIM:164310
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy	ORPHA:26792
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Hepatomegaly	OMIM:606069
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Leg muscle stiffness, Short stepped shu...	ORPHA:391411
Normokalemic Periodic Paralysis	Percussion myotonia	OMIM:170600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Distal lowe...	ORPHA:240094
Mucopolysaccharidosis, Type X	Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve...	OMIM:619698
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c...	ORPHA:1194
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Arthrogryposis Multiplex Congenita 6

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