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Gene: Myoz2 MGI:1913063

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

myozenin 2

Synonyms:

Fatz-2, 1110012I24Rik, calsarcin-1

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 Myoz2 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 Myoz2 (1 diseases)
Human diseases predicted to be associated with Myoz2 (789 diseases)

The table below shows human diseases associated to Myoz2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cardiomyopathy, Familial Hypertrophic, 16		Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838

The table below shows human diseases predicted to be associated to Myoz2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
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, 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
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
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, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargemen...	OMIM:619424
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,...	OMIM:160500
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy...	ORPHA:369840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy...	ORPHA:86812
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
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
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus...	OMIM:619705
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle	OMIM:255100
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Increased variability in muscle fiber diameter	OMIM:613752
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ...	OMIM:612098
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr...	OMIM:620265
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph...	OMIM:614302
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Proximal Myopathy With Extrapyramidal Signs	Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam...	ORPHA:401768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy, Hepatomegaly	OMIM:610717
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Cap Myopathy	Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,...	ORPHA:171881
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p...	OMIM:612863
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy	OMIM:232400
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
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
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme...	ORPHA:555874
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent foramen ...	OMIM:616866
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac...	OMIM:252011
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Congenital Myopathy 15	Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi...	OMIM:620161
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr...	OMIM:602390
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a...	OMIM:612954
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp...	OMIM:615418
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy	ORPHA:26792
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske...	OMIM:300280
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
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
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Adams-Oliver Syndrome 5	Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Pulmonary arterial hypertension, ...	OMIM:616028
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ...	ORPHA:2348
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu...	ORPHA:79083
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia	OMIM:619170
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure...	ORPHA:206569
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ...	OMIM:604377
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Central Core Disease	Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P...	ORPHA:597
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A...	OMIM:212138
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ...	ORPHA:79328
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:156
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip...	OMIM:607598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomy...	OMIM:300842
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ...	OMIM:232500
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy	OMIM:620326
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca...	ORPHA:79279
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora...	ORPHA:88630
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Hepatomegaly	OMIM:606069
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol...	ORPHA:368
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car...	OMIM:212350
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr...	ORPHA:555877
Heart Block, Congenital	Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros...	OMIM:234700
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart fail...	ORPHA:1194
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural...	OMIM:620278
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m...	OMIM:164310
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly	ORPHA:772
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Left ve...	OMIM:615355
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:246900
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated car...	ORPHA:367
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276556
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis...	OMIM:254090
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Alg1-Cdg	Cardiomyopathy, Abnormal heart morphology	ORPHA:79327
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Ac...	ORPHA:3386
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Abnormal cardiac ventricular function, Hepatomegaly	ORPHA:2394
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f...	OMIM:620351
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Hemochromatosis, Type 3	Cardiomyopathy	OMIM:604250
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Palpitations, Increased intramyocellular lipid...	OMIM:255125
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276580
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia	OMIM:617710
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology	ORPHA:70472
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Cardiomyopathy, Hepatomegaly	ORPHA:79312
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Hypokalemic Periodic Paralysis	Impaired myocardial contractility, Increased intramyocellular lipid droplets, Abnormal muscle fib...	ORPHA:681
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet...	OMIM:613327
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly	ORPHA:773
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly	OMIM:616651
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy	OMIM:619046
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly	OMIM:619902
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita	ORPHA:79321
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy	ORPHA:324525
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia	OMIM:609015
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:369
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg...	OMIM:614008
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Rhabdomyolysis...	ORPHA:26791
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Hepatomegaly	ORPHA:27
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy	OMIM:619386
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Lower limb amyotrophy	ORPHA:496790
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo...	ORPHA:79086
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se...	ORPHA:26793
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J...	ORPHA:85443
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy	OMIM:300590
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl...	ORPHA:258
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Optic Atrophy 11	Splenomegaly, Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping	OMIM:617302
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia	OMIM:606054
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent...	ORPHA:398124
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Myopathy, Hepatomegaly	OMIM:614922
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Ri...	OMIM:620233
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c...	ORPHA:528
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly	ORPHA:353298
Viss Syndrome	Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Patent foramen ovale,...	OMIM:619472
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellul...	ORPHA:98907
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615415
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Limb hypertonia	OMIM:620306
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion...	OMIM:608836
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:848
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology	OMIM:618250
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomeg...	OMIM:602782
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:1842
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Hepatomegaly	OMIM:615595
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Hepatomegaly, Ragged-red muscle fibers, Flexion contracture, Rhabdomyoly...	ORPHA:17
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest	OMIM:620167
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormal cardiac septum morphology, Hypopla...	ORPHA:251071
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy	OMIM:611719
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
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:157
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes...	OMIM:616878
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Pulmonic stenosis, Atrial septal defe...	OMIM:605275
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Muscular dystrophy	ORPHA:88618
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage, Hepatomegaly	OMIM:251000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:5
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi...	ORPHA:3071
Noonan Syndrome 10	Atrial septal defect, Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral r...	OMIM:616564
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas...	ORPHA:354
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Sickle Cell Disease	Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly	OMIM:603903
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:619383
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Hurler Syndrome	Hepatomegaly, Angina pectoris, Camptodactyly of finger, Abnormal heart valve morphology, Splenome...	ORPHA:93473
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy	ORPHA:95
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio...	OMIM:607014
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle steatosis	ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy	OMIM:618835
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy...	OMIM:130650
Wolfram Syndrome 1	Cardiomyopathy	OMIM:222300
Mogs-Cdg	Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy	ORPHA:79330
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Vici Syndrome	Cardiomyopathy	ORPHA:1493
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Myopathy, Increased variability in muscle fiber diameter, Muscle fibe...	OMIM:611881
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension	ORPHA:292
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Atrial s...	OMIM:617303
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Aicardi-Goutieres Syndrome 1	Splenomegaly, Cardiomyopathy, Vasculitis, Hepatomegaly	OMIM:225750
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Splenomegaly, Cardiomyopathy	ORPHA:264580
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture...	OMIM:253220
Agel Amyloidosis	Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction	ORPHA:85448
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:618810
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Limb hypertonia	ORPHA:572798
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow...	OMIM:245600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Weakness of facial musculature, Hypertrophic cardiomyopathy, Increased intramyocellular lipid dro...	OMIM:220110
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni...	OMIM:309801
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca...	OMIM:619745
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis	OMIM:203300
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo...	ORPHA:579
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea...	ORPHA:505248
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral ...	OMIM:253200
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H...	ORPHA:255210
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Vici Syndrome	Atrial septal defect, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy,...	OMIM:242840
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy	ORPHA:445038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy	ORPHA:3463
Gm1 Gangliosidosis Type 1	Macroglossia, Cardiomyopathy, Hepatosplenomegaly	ORPHA:79255
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Abnormal cardiac septum morphology	OMIM:217980
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Cardiomyopathy	OMIM:616084
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Martsolf Syndrome 1	Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Lowe...	ORPHA:97297
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue	ORPHA:2609
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Macroglossia, Cardiomyopathy, Atrial septal defect	ORPHA:769
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Pericardial effusion, Flexion contracture, Cardiomyopathy	OMIM:212065
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness	ORPHA:14
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia	ORPHA:2131
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Ragged-red muscle fibers, Concentric hypertr...	OMIM:252010
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Hereditary Spherocytosis	Splenomegaly, Restrictive cardiomyopathy, Hepatomegaly	ORPHA:822
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Sp...	ORPHA:217085
Noonan Syndrome 3	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At...	OMIM:609942
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ...	OMIM:617403
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Sp...	ORPHA:217093
Leopard Syndrome 1	Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola...	OMIM:151100
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype...	ORPHA:51
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy	OMIM:615398
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hypertrophic cardiomyopathy, Hypomimic face	ORPHA:309854
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I...	ORPHA:79102
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Congestive heart fa...	OMIM:256040
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Cardiomyopathy, Generalized muscular appearance from birth, Hepatomegaly	OMIM:608594
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Ogden Syndrome	Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se...	OMIM:300855
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl...	ORPHA:373
Cartilage-Hair Hypoplasia	Hepatomegaly, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, ...	ORPHA:175
Toriello-Carey Syndrome	Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis	ORPHA:3338
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Anemia, Congenital Dyserythropoietic, Type Iv	Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly	OMIM:613673
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy	OMIM:618329
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re...	ORPHA:90324
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S...	ORPHA:116
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Ventricular septal hypert...	OMIM:269700
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis	ORPHA:79430
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect	ORPHA:33364
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:607721
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Hematochezia, Hyperten...	OMIM:615846
Cardiofaciocutaneous Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten...	ORPHA:1340
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Postinfectious Vasculitis	Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti...	ORPHA:48435
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy	OMIM:616539
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363958
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Hypertrophic cardiomyopathy, Ragged-red muscle fibers	OMIM:124000
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Enl...	OMIM:276700
Oculoectodermal Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack	OMIM:600268
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology	ORPHA:369837
Castleman Disease	Restrictive cardiomyopathy	ORPHA:160
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Splenomegaly, Hypertrophic cardiomyopathy	ORPHA:1328
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,...	ORPHA:3472
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ...	OMIM:218040
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Ventricular sep...	OMIM:312870
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Zimmermann-Laband Syndrome 1	Splenomegaly, Cardiomyopathy, Hepatomegaly	OMIM:135500
Pearson Syndrome	Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Abnormal heart morphology, Cardiomyop...	ORPHA:699
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Hypertrophic cardiomyopathy, Enlarged ki...	ORPHA:508
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ...	OMIM:220111
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Acromegaly	Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963
Somatomammotropinoma	Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:314769
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r...	ORPHA:96334
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ...	OMIM:607872
Noonan Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:163950
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog...	ORPHA:97685
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy	ORPHA:480880
Yunis-Varon Syndrome	Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo...	OMIM:216340
Pallister-Killian Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Flexion contracture, Macroglossia, Ca...	OMIM:601803
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Intracranial he...	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myoz2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myoz2.

No publications found that use IMPC mice or data for Myoz2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Myoz2^{tm47078(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Myoz2^{tm47078(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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