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Gene: Csrp3 MGI:1330824

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cysteine and glycine-rich protein 3

Synonyms:

muscle LIM protein, MLP, CRP3

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 Csrp3 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 Csrp3 (3 diseases)
Human diseases predicted to be associated with Csrp3 (1197 diseases)

The table below shows human diseases associated to Csrp3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124

The table below shows human diseases predicted to be associated to Csrp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
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, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
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
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
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 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A...	ORPHA:171445
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
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
Ethanolaminosis	Cardiomegaly	OMIM:227150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Endocardial Fibroelastosis	Cryptorchidism, Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia	OMIM:255100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we...	ORPHA:171442
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
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
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Azo...	OMIM:602390
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy...	ORPHA:86812
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:91130
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy, Hepatomegaly	OMIM:610717
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop...	OMIM:618815
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture, Failure to thrive	OMIM:618237
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Congenital Myopathy With Myasthenic-Like Onset	Recurrent respiratory infections, Scapular winging, Multiple joint contractures, Rhabdomyolysis, ...	ORPHA:424107
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
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
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Failure to thrive, Increased variability in muscle fiber diameter	OMIM:613752
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Failure to thrive, Myopathy	ORPHA:26792
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy	OMIM:232400
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ...	ORPHA:206569
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ...	OMIM:617228
Central Core Disease	Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P...	ORPHA:597
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In...	OMIM:602541
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom...	OMIM:615352
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or...	OMIM:500002
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Elbow flexio...	ORPHA:97244
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitat...	OMIM:212140
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death...	OMIM:310300
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Muscular dystrophy	OMIM:309930
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy, Failure to thrive	OMIM:619651
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Hypertrophi...	OMIM:612954
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 28	Congestive heart failure, Ragged-red muscle fibers	OMIM:616794
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:98863
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type...	ORPHA:171433
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener...	ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am...	ORPHA:399081
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Failure to thrive, Nemaline bodies	OMIM:618246
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,...	OMIM:619477
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Slender build, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m...	OMIM:615156
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu...	OMIM:615418
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,...	OMIM:167320
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoospermia, Ischemic stroke, Decrease...	ORPHA:280679
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Stillbirth, Camptodactyly, Neonatal death, Pulmonary arterial hypertension	OMIM:619751
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Arrhy...	ORPHA:157973
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension	OMIM:615703
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
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 Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car...	ORPHA:367
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat...	OMIM:256030
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Hypertrophic cardiomyopathy, Fail...	OMIM:613561
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
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
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac...	OMIM:616866
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	ORPHA:254864
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial ...	OMIM:620265
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology	ORPHA:70472
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased m...	OMIM:500009
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m...	OMIM:603034
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Obesity	OMIM:620270
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat...	OMIM:613155
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, A...	ORPHA:42
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
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car...	OMIM:212350
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy	ORPHA:98896
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Multiple joint contractures, Slender build, Myopathy	ORPHA:352470
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Ac...	ORPHA:3386
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent...	ORPHA:398124
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel...	OMIM:255320
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy	OMIM:618323
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ...	OMIM:604377
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomy...	OMIM:300842
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Cap Myopathy	Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,...	ORPHA:171881
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy, Cardiomyopathy	ORPHA:1215
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic...	OMIM:160800
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi...	OMIM:614302
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia	OMIM:609015
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
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 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to thrive	OMIM:201470
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Dilated cardiomyopathy,...	ORPHA:2326
Atransferrinemia	Congestive heart failure	OMIM:209300
Combined Oxidative Phosphorylation Deficiency 20	Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo...	ORPHA:684
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
X-Linked Immunoneurologic Disorder	Myopathy, Recurrent respiratory infections, Abnormal pleura morphology	ORPHA:2571
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ...	ORPHA:2348
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Arterial rupture, Myopathy	ORPHA:300179
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 Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl...	ORPHA:486815
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Lipoid pneumonia	OMIM:620326
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
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
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal...	ORPHA:90308
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te...	OMIM:620389
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Hypertension, Az...	OMIM:300845
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Failure to th...	OMIM:618228
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy...	ORPHA:2596
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc...	OMIM:619065
Congenital Myopathy 15	Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi...	OMIM:620161
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria...	OMIM:618652
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se...	ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618229
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Babesiosis	Splenomegaly, Congestive heart failure, Myocardial infarction, Hepatomegaly	ORPHA:108
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hypertension, Myopathy, Abdominal obesity, Muscular dystrophy, Lower lim...	OMIM:615980
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Recurrent respiratory infections, Internally nucleated skeletal muscle f...	ORPHA:98905
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Failure to thrive	ORPHA:67048
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Azoospermia, Flexion contracture, Camptodactyly of finger	ORPHA:261519
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Weight loss, Cardiomyopathy, Hyperten...	ORPHA:767
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre...	OMIM:618484
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Isolated Glycerol Kinase Deficiency	Myopathy	ORPHA:408
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy...	OMIM:301830
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Recurrent pneumon...	ORPHA:254875
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ...	OMIM:232500
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
X-Linked Centronuclear Myopathy	Recurrent respiratory infections, Pneumonia, Weakness of facial musculature, Centrally nucleated ...	ORPHA:596
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary hypoplasia, Pulmonary arterial hypertension	OMIM:619003
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Noonan Syndrome 8	Failure to thrive, Ventricular septal defect, Large for gestational age, Pleural effusion, Mitral...	OMIM:615355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90037
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle...	OMIM:254090
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Glutamate-Cysteine Ligase Deficiency	Myopathy, Hepatosplenomegaly	ORPHA:33574
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ...	OMIM:619170
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr...	ORPHA:185
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Obesity, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intra...	ORPHA:98907
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card...	ORPHA:66634
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Lower limb muscle weakness, Foo...	ORPHA:521411
Infantile Refsum Disease	Hepatomegaly, Facial palsy, Cardiomyopathy, Arrhythmia, Failure to thrive	ORPHA:772
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A...	OMIM:212138
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath...	OMIM:248800
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy, Hypertension	OMIM:102200
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c...	ORPHA:528
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs	OMIM:255700
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Weight...	OMIM:164310
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Abnormal heart morphology, Joint contracture of the hand, Abnormal muscle f...	OMIM:175700
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
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
Hypophosphatasia, Childhood	Myopathy	OMIM:241510
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis...	ORPHA:26791
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618378
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block	ORPHA:480
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Recurrent lower re...	ORPHA:98915
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion...	OMIM:608836
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
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
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca...	ORPHA:79279
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Hepatomegaly	OMIM:606069
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Hec Syndrome	Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Dilated cardiomyopathy	OMIM:603736
Alstrom Syndrome	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly	OMIM:203800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Atrial septal ...	OMIM:249270
Carney Complex, Type 1	Congestive heart failure, Cardiac myxoma	OMIM:160980
Dietary Iron Overload Disease	Hepatomegaly, Congestive heart failure, Abnormal heart morphology	ORPHA:139507
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:156
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Myopathy, Hepatomegaly	OMIM:614922
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:615279
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Dilated ...	ORPHA:254892
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Pulmonary h...	OMIM:617022
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy, Hypertension, Hepatomegaly	ORPHA:363400
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Abnormal cardiac ventricular function, Failure to thrive, Hepatomegaly	ORPHA:2394
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Congestive heart failure	ORPHA:3077
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Increase...	OMIM:620278
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormality of the musculature of the limbs, High-output congestive heart failure, Con...	ORPHA:137667
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo...	ORPHA:79086
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora...	ORPHA:88630
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom...	ORPHA:276556
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Cardiomyopathy, Failure to thrive, Hepatomegaly	ORPHA:79312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Splenomegaly, High-output congestive heart failure, Dilated cardio...	ORPHA:231226
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Palpitations, Increased intramyocellular lipid...	OMIM:255125
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90033
Overlap Myositis	Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Raynaud phenomenon,...	ORPHA:206572
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Paramyotonia Congenita	Percussion myotonia, Handgrip myotonia, Paradoxical myotonia	OMIM:168300
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Failure to thrive	OMIM:619046
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo...	ORPHA:99050
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol...	ORPHA:368
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:246900
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:75564
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom...	ORPHA:276575
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Mitral...	OMIM:617258
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure	ORPHA:67
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Patent foramen ovale	OMIM:614582
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Flexion co...	OMIM:309900
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas...	ORPHA:354
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom...	ORPHA:276580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, ...	ORPHA:231214
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Atrial s...	OMIM:617303
Heart Block, Congenital	Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros...	OMIM:234700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:369
Alg1-Cdg	Cardiomyopathy, Abnormal heart morphology	ORPHA:79327
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Aarskog-Scott Syndrome	Congestive heart failure, Camptodactyly of finger, Cryptorchidism	ORPHA:915
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat...	OMIM:254940
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy, Failure to thrive	ORPHA:324525
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Thomsen And Becker Disease	Myotonia	ORPHA:614
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:157
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy	OMIM:619026
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma...	ORPHA:99939
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Large for gestational age	OMIM:617757
Spinocerebellar Ataxia With Epilepsy	Myopathy	ORPHA:254881
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet...	OMIM:613327
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo...	ORPHA:579
Carcinoid Syndrome	Tricuspid regurgitation, Right ventricular failure, Heart murmur, Myopathy, Palpitations, Facial ...	ORPHA:100093
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J...	ORPHA:85443
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Weight loss, Atrial septal defect, Hypertrophic c...	ORPHA:1842
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Pulmonary hypoplasia	ORPHA:79321
Hypokalemic Periodic Paralysis	Impaired myocardial contractility, Increased intramyocellular lipid droplets, Abnormal muscle fib...	ORPHA:681
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contracture, Cardiomyop...	ORPHA:258
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,...	OMIM:242840
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomeg...	OMIM:616651
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hypertension, Palpitat...	ORPHA:525731
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Martsolf Syndrome 1	Cryptorchidism, Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Normokalemic Periodic Paralysis	Percussion myotonia	OMIM:170600
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent respiratory infections, Cor triatriatum, Secundum atrial septal defect, S...	OMIM:612541
Hemochromatosis, Type 3	Cardiomyopathy	OMIM:604250
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Pat...	OMIM:610505
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Cryptorchidi...	OMIM:601808
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f...	OMIM:620351
Scleromyxedema	Transient ischemic attack, Hypoperistalsis, Raynaud phenomenon, Abnormal lung morphology, Abnorma...	ORPHA:167635
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea...	ORPHA:505248
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Congestive heart failure	OMIM:617253
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H...	ORPHA:255210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Myotonia Fluctuans	Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni...	ORPHA:99734
Short Stature, Microcephaly, And Endocrine Dysfunction	Cryptorchidism, Dilated cardiomyopathy	OMIM:616541
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature	OMIM:616239
Familial Isolated Hypoparathyroidism	Myopathy, Arrhythmia	ORPHA:2238
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy	ORPHA:166002
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata...	OMIM:619705
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Atelectasis, Centrally nucleated skeletal muscle fibers	OMIM:300219
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia	OMIM:254950
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Muscle fiber splitting	OMIM:606408
Propionic Acidemia	Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Failure to thrive, Limb hypertonia	OMIM:606054
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Limb hypertonia, Generalized amyotrophy, Cardiomyopathy	OMIM:617710
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Aortic valve st...	OMIM:615415
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Primary testicular failure, Congestive heart failure, ...	ORPHA:85450
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Obesity, Weight loss, Hypertrophic ca...	ORPHA:251071
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy, Myositis	ORPHA:3243
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Pulmonary arterial hyp...	ORPHA:220393
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve...	OMIM:231050
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arterial rupture, Lim...	ORPHA:1900
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Chanarin-Dorfman Syndrome	Myopathy, Hepatomegaly	OMIM:275630
Brody Disease	Percussion myotonia, Myotonia	OMIM:601003
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Skeletal muscle atrophy, Secundum atrial septal defect, Congestive heart failure, S...	OMIM:608779
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli...	ORPHA:3260
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Refsum Disease	Heart block, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy	ORPHA:773
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Failure to thrive, Palpitations, Abnormal heart morphology	OMIM:618250
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Muscle fi...	ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy	OMIM:618839
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdu...	OMIM:615368
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency	OMIM:166210
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vasculitis, Dilated cardiomy...	OMIM:615688
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Myotonia, Potassium-Aggravated	Percussion myotonia, Handgrip myotonia, Myotonia	OMIM:608390
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture	ORPHA:89842
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ...	ORPHA:365
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly	OMIM:619902
Adrenomyodystrophy	Myopathy, Failure to thrive	ORPHA:977
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Hepatomegaly	OMIM:615595
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Failure to thrive, Skeletal muscle autophagosome accumulation, Centrally nucleat...	OMIM:619518
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula...	ORPHA:559
Sickle Cell Disease	Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly	OMIM:603903
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Right bundle branch ...	OMIM:617403
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities, Atrioventricular canal defect, Aplasia/Hypoplasia of the lungs	ORPHA:2549
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect...	ORPHA:93672
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	OMIM:300653
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Hepatomegaly, Recurrent respiratory infections, Ragged-red muscle fibers...	ORPHA:17
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Hepatomegaly	ORPHA:27
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Pneumothorax, Abnormal heart morphology, ...	ORPHA:2953
Cystinosis	Myopathy, Failure to thrive, Portal hypertension	ORPHA:213
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:5
Leber Optic Atrophy	Myopathy, Arrhythmia	OMIM:535000
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Recurrent pneumonia, Hepatosplenomegaly	ORPHA:353298
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Failure to thrive, Flexion contracture	OMIM:620240
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Recurrent respiratory infections, Abnormal atrioventricula...	ORPHA:576
Tetrasomy 5P	Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arteria...	ORPHA:3309
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive, Hepatomegaly	OMIM:251000
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we...	ORPHA:99013
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Bronchiectasis, Small thenar eminence, Distal lower limb muscle weakness, Tendo...	OMIM:620080
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w...	OMIM:616479
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Splenomegaly, Congestive heart failure, Myopathy, Failure to thrive	OMIM:615512
Optic Atrophy 11	Splenomegaly, Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping	OMIM:617302
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e...	OMIM:618775
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas...	ORPHA:33226
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Small for gestational age, Left ventricular noncompaction cardiomyop...	OMIM:620167
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy	OMIM:619386
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy	OMIM:300590
Immunodeficiency 9	Myopathy, Failure to thrive	OMIM:612782
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,...	ORPHA:2331
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail...	ORPHA:902
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio...	OMIM:619573
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb...	OMIM:602782
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Lower limb amyotrophy	ORPHA:496790
Noonan Syndrome 5	Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic card...	OMIM:611553
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Myopathy, Increased variability in muscle fiber diameter, Muscle fibe...	OMIM:611881
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature	ORPHA:98673
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Costello Syndrome	Ventricular septal defect, Failure to thrive in infancy, Mitral valve prolapse, Macroglossia, Pul...	ORPHA:3071
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Failure to thrive, Muscular dystrophy	ORPHA:88618
Erdheim-Chester Disease	Congestive heart failure, Abnormal aortic valve morphology, Abnormal pericardium morphology	ORPHA:35687
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Myopathy, Pneumonia, Hepatomegaly	ORPHA:169090
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy	ORPHA:3463
Fucosidosis	Hepatomegaly, Decreased muscle mass, Failure to thrive, Cardiomegaly	ORPHA:349
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction...	ORPHA:221
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin lesions, Tel...	ORPHA:247691
Abetalipoproteinemia	Hepatomegaly, Failure to thrive, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower l...	ORPHA:14
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
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
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Failure to thrive	ORPHA:71
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:848
Avian Influenza	Congestive heart failure, Rhabdomyolysis	ORPHA:454836
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Cryptorchidism	ORPHA:2505
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Congestive heart failure, Pulmonary arterial hypertension	OMIM:616482
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch...	ORPHA:1830
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Skeletal muscle steatosis	ORPHA:436271
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Small for gestational age, Type 2 muscle fiber predominance, Arrhythmia,...	OMIM:615471
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat...	OMIM:608328
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Recurrent respiratory infections, Failure to thrive, Hypoplasia of the musculatu...	ORPHA:2020
Axial Osteomalacia	Myopathy	OMIM:109130
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pleural effusion, Mitral regur...	OMIM:616564
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Hyperten...	ORPHA:1358
Muscle-Eye-Brain Disease	Myopathy	ORPHA:588
Immunodeficiency 10	Myopathy	OMIM:612783
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Splenomegaly, Increased b...	ORPHA:264580
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Pulmonary hypoplasia...	ORPHA:171430
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Recurrent respiratory infections, Flexion contracture, Atrial septal defect, Hypert...	OMIM:619383
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Myotonia	ORPHA:371
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Flexion contracture	OMIM:616271
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	ORPHA:713
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Failure to thrive, Ventricular septal defect	OMIM:612938
Congenital Myopathy 17	Failure to thrive in infancy, Respiratory tract infection, Myopathy, Distal arthrogryposis, Pulmo...	OMIM:618975
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao...	ORPHA:298
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic...	OMIM:605275
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased intramyocellular lipid droplets, Weakness of facial musculature, Hypertro...	OMIM:220110
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Camptodactyly of...	ORPHA:93473
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture...	OMIM:253220
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy	OMIM:611719
Stormorken Syndrome	Myopathy, Epistaxis, Subarachnoid hemorrhage	OMIM:185070
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Flexion contr...	OMIM:607014
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Large for gestational age	OMIM:613706
Localized Scleroderma	Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Myopathy, Arrhythmia	ORPHA:90289
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Vici Syndrome	Cardiomyopathy, Recurrent respiratory infections	ORPHA:1493
Congenital Myopathy 9A	EMG: myopathic abnormalities, Obesity	OMIM:618822
Hypotonia-Cystinuria Syndrome	Failure to thrive, Ragged-red muscle fibers, Facial palsy	OMIM:606407
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopat...	OMIM:130650
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy	OMIM:613077
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Abnormal cardiac ventricular function, Dilatation of the ventricular ca...	ORPHA:90349
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion	ORPHA:292
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonar...	ORPHA:95430
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Myop...	ORPHA:109
Agel Amyloidosis	Facial palsy, Respiratory tract infection, Cardiomyopathy, Arrhythmia, Orthostatic hypotension du...	ORPHA:85448
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes...	OMIM:616878
Aceruloplasminemia	Congestive heart failure, Torticollis	ORPHA:48818
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart fa...	OMIM:256040
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Noonan Syndrome 4	Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy...	OMIM:610733
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy, Small for gestational age	OMIM:616051
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor...	ORPHA:536545
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Recurrent lower respiratory tract infections, Fac...	OMIM:616720
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Congenital-Onset Steinert Myotonic Dystrophy	Myotonia, Bundle branch block, Abnormal cardiac septum morphology, First degree atrioventricular ...	ORPHA:589821
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O...	ORPHA:79102
Listeriosis	Pericarditis, Myocarditis, Congestive heart failure, Rhabdomyolysis, Endocarditis, Arteritis	ORPHA:533
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities	ORPHA:457365
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:619743
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Beta-Thalassemia Intermedia	Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Pulmonary a...	ORPHA:231222
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis, Pulmonary fibrosis	OMIM:203300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Renovascular hypertension, Hepatosplenomegaly, Pulmonary arterial hyper...	ORPHA:391487
Aicardi-Goutieres Syndrome 1	Splenomegaly, Cardiomyopathy, Vasculitis, Hepatomegaly	OMIM:225750
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Failure to thrive, Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy	OMIM:600462
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy	ORPHA:95
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
Generalized Pustular Psoriasis	Congestive heart failure	ORPHA:247353
Pseudoachondroplasia	Skeletal myopathy	ORPHA:750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:618810
Wolfram Syndrome 1	Cardiomyopathy	OMIM:222300
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Generalized amyotrophy...	OMIM:602668
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent...	ORPHA:79330
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Ragged-red muscle fibers, Concentric hypertr...	OMIM:252010
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Flexion contracture, Recurrent up...	OMIM:253200
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s...	OMIM:619574
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy, Pneumothorax	ORPHA:445038
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Abnormal mitochondria in muscle tissue	ORPHA:2609
Myotonic Dystrophy 1	Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass	ORPHA:261476
Xanthinuria, Type I	Myopathy	OMIM:278300
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult...	OMIM:608013
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo...	ORPHA:300605
1P36 Deletion Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Cryptorchidism, Dilated cardiomyopathy,...	ORPHA:1606
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Tricuspid regurgitation, Myopathy, Mitral regurgitation, Type 1 muscle f...	OMIM:614557
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure	OMIM:181270
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Myotonia With Skeletal Abnormalities And Mental Retardation	Myotonia	OMIM:255710
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy	OMIM:618835
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Limb hypertonia	ORPHA:572798
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Pericardial effusion, Flexion contracture, Cardiomyopathy, Failure to...	OMIM:212065
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Macroglossia, Pul...	ORPHA:444077
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Skeletal muscle...	ORPHA:800
Primary Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hep...	ORPHA:171
Sanjad-Sakati Syndrome	Myopathy, Recurrent respiratory infections	ORPHA:2323
Acetazolamide-Responsive Myotonia	Myotonia	ORPHA:99736
Gm1 Gangliosidosis Type 1	Macroglossia, Cardiomyopathy, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca...	OMIM:619745
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Abnormal left ven...	ORPHA:892
Choreoacanthocytosis	Hepatomegaly, Peroneal muscle atrophy, Splenomegaly, Dilated cardiomyopathy, Weight loss, Myopath...	ORPHA:2388
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Facial hypotonia, Pneumonia, Hepatosplenomegaly, Macroglossia, Mitral regur...	ORPHA:309282
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp...	OMIM:618143
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber at...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber at...	ORPHA:98914
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Abnormal cardiac septum morphology	OMIM:217980
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:614052
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Fa...	ORPHA:2131
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Dilatation of the ventricul...	ORPHA:90348
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Cardiomyopathy	OMIM:616084
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia	ORPHA:324442
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Failure to thrive, Ragged-red muscle fibers	OMIM:614924
Marfan Syndrome	Congestive heart failure, Mitral valve calcification, Skeletal muscle atrophy, Mitral valve prolapse	ORPHA:558
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Flexion contracture, Foot joint contracture	ORPHA:79408
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Failure to thrive, Hypotension, Weight loss	ORPHA:361
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Epistaxis, Weight loss, Cardiomyopathy, Pulmonary fibrosis	ORPHA:79430
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypertrophic cardiomyopathy	OMIM:613673
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication, F...	ORPHA:416
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp...	ORPHA:217085
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect	ORPHA:769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Atypical Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Congestive heart failure, Aortic valve calci...	ORPHA:79474
Cartilage-Hair Hypoplasia	Hepatomegaly, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, ...	ORPHA:175
Microform Holoprosencephaly	EMG: myopathic abnormalities, Tetralogy of Fallot	ORPHA:280200
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp...	ORPHA:217093
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Myotonia	ORPHA:209335
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Large for gestational age	OMIM:615398
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype...	ORPHA:51
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618329
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal...	OMIM:618733
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Ogden Syndrome	Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se...	OMIM:300855
Episodic Ataxia, Type 2	Myotonia	OMIM:108500
Hereditary Spherocytosis	Splenomegaly, Restrictive cardiomyopathy, Hepatomegaly	ORPHA:822
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure	OMIM:617156
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Pneumonia, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Weight loss...	OMIM:615846
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, He...	ORPHA:3385
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture	OMIM:225400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h...	OMIM:619475
Hallermann-Streiff Syndrome	Congestive heart failure, Cryptorchidism	ORPHA:2108
Noonan Syndrome 3	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At...	OMIM:609942
Postinfectious Vasculitis	Cerebral vasculitis, Pneumonia, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension, Is...	ORPHA:48435
Myotonia Permanens	Myotonia	ORPHA:99735
Leopard Syndrome 1	Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola...	OMIM:151100
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Arrhythmia, EMG: myopathic abnormalities	ORPHA:480864
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, At...	OMIM:607721
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hypertrophic cardiomyopathy, Hypomimic face	ORPHA:309854
Multiple Endocrine Neoplasia, Type Iib	Myopathy, Failure to thrive in infancy	OMIM:162300
Glycerol Kinase Deficiency	Myopathy, Small for gestational age, Muscular dystrophy	OMIM:307030
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Macroglossia	ORPHA:96191
Episodic Ataxia Type 1	Myotonia	ORPHA:37612
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Cardiomyopathy, Generalized muscular appearance from birth, Hepatomegaly	OMIM:608594
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Failure to thrive, Hypertrophic cardiomyopathy, Ragged-red muscle fibers	OMIM:124000
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl...	ORPHA:373
Cystinosis, Nephropathic	Skeletal muscle atrophy, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, M...	OMIM:219800
Trichothiodystrophy	Cardiomyopathy, Recurrent bronchopulmonary infections, Multiple joint contractures, Ventricular s...	ORPHA:33364
Toriello-Carey Syndrome	Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis	ORPHA:3338
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Failure to thrive in infancy, Pulmonic stenosis, Atrial septal d...	ORPHA:1340
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, Obesity, Abnormal heart morphology, Atrial septal defect, Restrictive car...	ORPHA:369837
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ...	ORPHA:363958
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Splenomegaly, Hypertrophic cardiom...	ORPHA:1328
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegal...	OMIM:243800
Parkes Weber Syndrome	Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Lower limb muscle ...	ORPHA:90307
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy, Failure to thrive	OMIM:616539
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Fai...	OMIM:276700
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia	ORPHA:391307
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to th...	OMIM:115150
Stromme Syndrome	Myopathy	OMIM:243605
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re...	ORPHA:90324
Carney Complex	Testicular neoplasm, Cardiac myxoma, Congestive heart failure, Testicular adrenal rest tumor, Oli...	ORPHA:1359
Castleman Disease	Restrictive cardiomyopathy, Weight loss	ORPHA:160
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Hypertension,...	ORPHA:3472
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build	OMIM:603041
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Mitral va...	OMIM:218040
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Ventricular septal hypert...	OMIM:269700
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Decreased body weight, Hypertrophic card...	ORPHA:508
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Caribbean Parkinsonism	EMG: myopathic abnormalities, Orthostatic hypotension	ORPHA:97355
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Pearson Syndrome	Hepatomegaly, Small for gestational age, Cardiac conduction abnormality, Splenomegaly, Abnormal h...	ORPHA:699
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Small for gestational age, Aortic valve atresia, Hypertens...	OMIM:220111
Spastic Paraplegia 79B, Autosomal Recessive	Myotonia	OMIM:615491
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diast...	OMIM:312870
Oculoectodermal Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack	OMIM:600268
Zimmermann-Laband Syndrome 1	Splenomegaly, Cardiomyopathy, Hepatomegaly	OMIM:135500
Alström Syndrome	Hepatomegaly, Portal hypertension, Testicular fibrosis, Congestive heart failure, Splenomegaly, D...	ORPHA:64
Proteus Syndrome	Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Spl...	ORPHA:744
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r...	ORPHA:96334
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass	OMIM:234200
Noonan Syndrome 1	Ventricular septal defect, Failure to thrive in infancy, Chylothorax, Pulmonic stenosis, Atrial s...	OMIM:163950
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Abnormal lung lobation, Hypertension, Pulm...	OMIM:270400
Fanconi Anemia	Weight loss, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Atrial septal ...	ORPHA:84
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal lung morphology, Renovascular hypertension...	ORPHA:97685
Acromegaly	Macroglossia, Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation	ORPHA:963
Somatomammotropinoma	Macroglossia, Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation	ORPHA:314769
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Myotonia	OMIM:601559
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy, Recurrent upper and lower respiratory tract infections	ORPHA:480880
Yunis-Varon Syndrome	Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Heart murmur,...	OMIM:216340
Pallister-Killian Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Macrogl...	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 Csrp3

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 Csrp3.

No publications found that use IMPC mice or data for Csrp3.

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
Csrp3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Csrp3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Csrp3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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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