Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
desmin
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Des 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Left atrial enlargement, Systolic anterior motion of the ... OMIM:619402
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Neck flexor weakness, Increased mitochondrial number, Palpitations, Ventri... ORPHA:263297
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Mitochondrial depletion, Facial palsy, Generalized muscle weakn... OMIM:611705
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... ORPHA:98912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Abnormal heart morphology, Atrioventricular b... OMIM:614954
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... OMIM:613243
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Desminopathy
Concentric hypertrophic cardiomyopathy, Fatigable weakness of bulbar muscles, Neck flexor weaknes... ORPHA:98909
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Myopathy, Myofibrillar, 3
Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... OMIM:609200
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Atrioventricular block, Achilles tendon contracture, Decreased cervical spine flexion d... OMIM:310300
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... OMIM:609452
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Autophagic vacuoles, Facial diplegia, Respiratory insufficien... ORPHA:399058
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Gait imbalance, Weakness of facial musculature, Exercise... ORPHA:63273
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Scapuloperoneal Myopathy, X-Linked Dominant
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapuloperoneal... OMIM:300695
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Proximal muscle weakness, Rimmed vacuoles, Scapuloperoneal weakness,... OMIM:300696
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Proximal muscle weakness, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:612999
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibe... OMIM:160500
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia OMIM:614302
Distal Myotilinopathy
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... ORPHA:98911
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Muscular dystrophy, Arrhythmia, Shoulder girdle muscle weakness OMIM:310095
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Cardiomyopathy, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Proximal muscle weakness, Pelvic girdle muscle weakness, Reduced muscle f... ORPHA:34515
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle ... OMIM:612937
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Muscl... ORPHA:263494
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... OMIM:604286
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... OMIM:618782
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Heart block ORPHA:1964
Myopathy, Distal, 4
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardio... OMIM:614065
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Proximal muscle weakness, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakne... OMIM:616812
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Atrial fibrillation, Mitral regurgitation OMIM:617047
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Ventricular hypertrophy, At... OMIM:115197
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Proximal muscle weakness, Myopathy, Supraventricular tachycardia, Cardiomyopathy, Fatty replaceme... OMIM:255100
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles OMIM:609500
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Palpitations, Calf mu... ORPHA:488650
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Nathalie Syndrome
Arrhythmia ORPHA:2663
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Myopathy, Type 1 muscle fiber predominance, Proximal muscle weakness, Triceps weakne... ORPHA:86812
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Proximal muscle weakness, Absent muscle dystrophin expression, Abnormalit... ORPHA:206546
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Generalized amyotrophy, EMG: myopathic abnor... OMIM:300257
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Myofibrillar Myopathy 11
Z-band streaming, Coarctation of aorta, Generalized amyotrophy, Shoulder girdle muscle atrophy, E... OMIM:619178
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Gowers sign, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscu... OMIM:602541
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ... OMIM:600996
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Proximal muscle weakness, Cardiomyopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystr... OMIM:615352
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystro... OMIM:616827
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... OMIM:212138
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Neck flexor weakness, Respirato... ORPHA:171442
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Limb mu... OMIM:609286
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98855
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy,... OMIM:300580
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Leber Hereditary Optic Neuropathy
Myopathy, Ventricular preexcitation, Retinal telangiectasia, Arrhythmia, Mitochondrial respirator... ORPHA:104
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... OMIM:618654
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Arrhythmia, Elbow flexion contracture, Muscle weakness OMIM:616516
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Proximal muscle weakness, Respiratory insufficiency due to muscle weaknes... OMIM:300718
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block ORPHA:1479
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98853
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Generalized amyotrophy, EMG: myopathic abno... OMIM:612954
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis OMIM:613255
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture OMIM:609308
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Ebstein anomaly of the tricusp... OMIM:224700
Rigid Spine Syndrome
Poor head control, Myopathy, Gowers sign, Skeletal muscle atrophy, Hip contracture, Cardiac condu... ORPHA:97244
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Proximal muscle weakness, Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block OMIM:613158
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressi... ORPHA:480
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Proximal muscle weakness, Limb joint contracture, Respiratory insufficien... OMIM:255310
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... ORPHA:98863
Ethanolaminosis
Cardiomegaly OMIM:227150
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... OMIM:302060
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Nemaline Myopathy 3
Dilated cardiomyopathy, Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Res... OMIM:161800
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Duchenne Muscular Dystrophy
Proximal muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, Cardiomyopathy, C... ORPHA:98896
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia,... ORPHA:352447
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Poor head control, Generalized limb muscle atrophy, Prolonged QT interval, Congenital muscular dy... OMIM:615351
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:619024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Fl... OMIM:613155
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... ORPHA:457050
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Gowers sign, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achill... ORPHA:254361
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Syncope, Right ventricular dilatation, Palpitations, Chest pain, Elevated jugular v... ORPHA:422
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Nemaline Myopathy 11, Autosomal Recessive
Gowers sign, Facial palsy, Cardiomyopathy, Scapular winging, Nemaline bodies OMIM:617336
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Gowers sign, Cardiomyopathy, Muscular dystrophy, Congestive heart failure... OMIM:310200
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Ebstein anomaly of the t... ORPHA:1880
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dy... OMIM:253700
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Myopathy, Increased muscle lipid content, Proximal muscle weakness, Cardiomyopathy, ... OMIM:610717
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle morpholog... ORPHA:1055
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Muscle weakness, Rhabdomyo... OMIM:300842
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Muscular Dystrophy, Congenital, Merosin-Positive
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... OMIM:609456
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... ORPHA:75249
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement, Decreased muscle glycogen ... OMIM:611556
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Palpitations, Decreased activity of mitochondrial complex III, Increased intramyocellul... OMIM:255125
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Myopathy, Skeletal muscle atrophy, Congestive heart failure, Flexion contractu... ORPHA:157973
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Peroneal muscle atrophy, Distal amyotrophy, Atrioventricular block, Abnormal atrioventricular con... OMIM:118230
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly OMIM:618453
Variegate Porphyria
Tachycardia OMIM:176200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed... OMIM:603511
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... OMIM:540000
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Ab... ORPHA:90064
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Muscle weakness, Conges... OMIM:616794
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal mu... OMIM:254130
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Myopathy, Distal, 3
Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... OMIM:610099
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... OMIM:605355
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ... OMIM:618378
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... OMIM:115250
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture, Lethargy OMIM:201470
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure, Abnormality of the mi... ORPHA:91130
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Progressive muscle weakness, Respiratory insufficiency due to muscle... OMIM:613561
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... ORPHA:399086
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy OMIM:617066
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Tachycardia, Muscle weakness, Glycogen accu... ORPHA:368
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... ORPHA:98902
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Muscle weakness, Increased endomysial connective t... OMIM:617072
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Fatiguable weakness of proximal l... ORPHA:206569
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal amyotrophy, Gowers sign, Proximal muscle weakness, Ventricular hypertrophy, Muscular dys... OMIM:601287
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Arrhythmia OMIM:615084
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... ORPHA:171439
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle weakness ORPHA:1177
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Nemaline Myopathy 7
Gowers sign, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficiency due to muscle we... OMIM:610687
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Ex... OMIM:212140
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Rhabdomyolysis, Muscle weakness, Decreased plasma carnit... ORPHA:159
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Mitral regurgitatio... OMIM:617258
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212160
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Hypertension, Cardiac amyloidosis, Abnormal cardiac ventricular func... ORPHA:439232
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... ORPHA:75565
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... ORPHA:663
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Infantile Refsum Disease
Cardiomyopathy, Facial palsy, Arrhythmia, Progressive muscle weakness ORPHA:772
Complete Atrioventricular Septal Defect
Right ventricular failure, Complete atrioventricular canal defect, Primum atrial septal defect, L... ORPHA:1329
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Necrotizing myopathy, Ventricular tachycardia, Supraventricula... ORPHA:423
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Atrial septal dil... ORPHA:1677
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Proximal muscle weakness, Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormaliti... OMIM:611307
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Prog... ORPHA:1349
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... OMIM:255320
Bethlem Myopathy 2
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Congestive heart failure OMIM:618234
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Myotonic Dystrophy 1
First degree atrioventricular block, Facial diplegia, Atrial flutter, Atrial fibrillation OMIM:160900
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopath... OMIM:619424
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Classic Multiminicore Myopathy
Right ventricular failure, Poor head control, Increased muscle lipid content, Mitral valve prolap... ORPHA:324604
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Torticoll... OMIM:158810
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Abnormal heart morphology, Atrioventricular block,... ORPHA:398124
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Neck flexor weakness, Right ventricular hypertrophy, Macroglossia, Achilles tendon c... ORPHA:353
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Progressive external ophthalmopleg... OMIM:530000
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, External ophthalmoplegia, Beevor's si... OMIM:158900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Proximal muscle weakness, Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Left ventricul... OMIM:613156
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Proximal amyotrophy, Proximal muscle weakness, Ventricular septal hypertrophy, Muscular dystrophy... OMIM:612998
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR interval, Patent forame... ORPHA:542306
Nemaline Myopathy 2
Mitochondrial depletion, Generalized muscle weakness, Late-onset distal muscle weakness, Calf mus... OMIM:256030
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Fl... ORPHA:272
Myopathy, Centronuclear, 2
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrop... OMIM:613818
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness OMIM:606842
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia OMIM:606703
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Distal Anoctaminopathy
Progressive muscle weakness, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrop... ORPHA:399096
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles OMIM:617760
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Hip contracture, Facial palsy, Ophthalmoplegia, Axial muscle weakness OMIM:615959
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Atrial fibrillation OMIM:616166
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Proximal muscle weakness, Scapular muscle atrophy, Congenital finger f... ORPHA:267
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystroph... ORPHA:280333
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal muscle weakness, Cardiomyopathy, Distal amyotrophy OMIM:610100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Ataxia, Bradykinesia, Lethargy OMIM:618683
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Cap Myopathy
Fatiguable weakness of proximal limb muscles, Gowers sign, Abnormal muscle fiber morphology, Poor... ORPHA:171881
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia ORPHA:324588
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Beevor's sign, Facial palsy, Sc... OMIM:158901
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Myopathy, Cardiomyopathy, Lethargy ORPHA:26792
8p23.1 deletion syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Atrial septal defect, Abnormal he... DECIPHER:39
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Right ventricular dilatation, Myalgia, Limb-girdle muscular dystrophy, Truncal ataxia, ... ORPHA:369847
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, In... ORPHA:119
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Achalasia, Skeletal muscle atrophy, Progressive muscle weakness OMIM:252320
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle atrophy, Coma, Fatigue, Loss of consci... ORPHA:156
Dk1-Cdg
Dilated cardiomyopathy, Progressive muscle weakness, Cardiomyocyte hypertrophy, Interstitial card... ORPHA:91131
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... OMIM:616878
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Orthostatic hypotension, Atrioventricular block, Abnormal atrioventricul... OMIM:118301
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Proximal m... ORPHA:732
Muscular Dystrophy, Congenital, 1B
Gowers sign, Diaphragmatic weakness, Generalized muscle hypertrophy, Achilles tendon contracture,... OMIM:604801
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... ORPHA:57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Proximal muscle weakness, Skeletal muscle atrophy, EMG: myopathic abnormalities, Muscular dystrop... OMIM:608807
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal muscle weakness, External ophthalmo... OMIM:164310
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Progressive muscle weakness, Ragged-red muscle fibers OMIM:607426
Bethlem Myopathy
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... ORPHA:610
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Weakness of ... ORPHA:329336
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Decreased plasma free carnitine, Ventricular hypertrophy, Cardiomyopathy, Muscle weakne... ORPHA:228305
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature OMIM:181430
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Proximal muscle weakness, Skeletal muscle atrophy, Distal muscle weakness, Arrhythmia, Hand muscl... ORPHA:99944
Holt-Oram Syndrome
Ventricular septal defect, Atrioventricular canal defect, Atrioventricular block, Atrial septal d... ORPHA:392
Myopathy, Spheroid Body
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... OMIM:182920
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Progressive muscle weakness, Rimmed vacuoles, Skeletal muscle autophag... OMIM:619518
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Myotonic Dystrophy 2
Oligospermia, Proximal muscle weakness, Type 2 muscle fiber atrophy, Neck flexor weakness, Palpit... OMIM:602668
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Syncope, Partial atrioventricular canal defect, Mi... ORPHA:1330
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Zebra Body Myopathy
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... ORPHA:97240
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Autosomal Recessive Progressive External Ophthalmoplegia
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, External opht... ORPHA:254886
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Lethargy ORPHA:254857
Sengers Syndrome
Hypertrophic cardiomyopathy, Muscle weakness, Myopathy OMIM:212350
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Gowers sign, Proximal muscle weakness, Skeletal muscle atrophy, Generalized muscle weakness, Musc... OMIM:613723
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Proximal muscle weakness, Ragged-red muscle fibers, Mitral valve prolapse, Progressive external o... OMIM:258450
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Myopathy, Proximal, With Ophthalmoplegia
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... OMIM:605637
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly OMIM:615895
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, Decreased activity of mitochondria... ORPHA:99901
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Poor head control, Myopathy, Skeletal muscle atrophy, Arterial rupture, Muscle weakness ORPHA:300179
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Limb muscle weakness, Progressive muscle weakness, Facial p... OMIM:610131
Muscular dystrophy, limb-girdle, type 2R