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Gene: Dmpk MGI:94906

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

dystrophia myotonica-protein kinase

Synonyms:

Dm15, DM

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 Dmpk 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 Dmpk (2 diseases)
Human diseases predicted to be associated with Dmpk (650 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Myotonic Dystrophy 1		Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Muscle...	OMIM:160900
Congenital-Onset Steinert Myotonic Dystrophy		Bundle branch block, Facial hypotonia, First degree atrioventricular block	ORPHA:589821

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

Disease	Matching phenotypes	Source
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Progressive distal muscl...	OMIM:609452
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Progressive distal muscle weakness, Proximal ...	OMIM:609200
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Heart block, ...	ORPHA:98912
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ...	OMIM:617030
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive...	ORPHA:178400
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy...	ORPHA:603
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa...	ORPHA:59135
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Progressive dist...	ORPHA:98911
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we...	OMIM:614065
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block...	OMIM:310300
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Desminopathy	Neck flexor weakness, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficienc...	ORPHA:98909
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k...	OMIM:618655
Nonaka Myopathy	Distal muscle weakness, Elevated circulating creatine kinase concentration, Distal amyotrophy, EM...	OMIM:605820
Myopathy, Myofibrillar, 1	Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn...	OMIM:601419
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho...	OMIM:609115
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:611615
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Nemaline Myopathy 6	Skeletal muscle atrophy, Neck flexor weakness, Elevated circulating creatine kinase concentration...	OMIM:609273
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Gowers sign, Cardiomyopathy,...	OMIM:617336
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu...	OMIM:616199
Myopathy, Distal, Tateyama Type	Neck flexor weakness, Elevated circulating creatine kinase concentration, Hand muscle weakness, C...	OMIM:614321
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ...	OMIM:609500
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Eleva...	ORPHA:178464
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ...	ORPHA:399096
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals...	OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet...	OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal...	OMIM:618848
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca...	OMIM:158810
Oculopharyngodistal Myopathy 2	Bulbar palsy, Distal muscle weakness, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati...	OMIM:608807
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Dilate...	OMIM:612937
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Myopathy, Myofibrillar, 5	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Muscle fiber cytopl...	OMIM:609524
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase concentration, Fatt...	OMIM:620249
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Progressive distal muscle weakness, Increase...	ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Inclusion Body Myositis	Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles	OMIM:147421
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ...	OMIM:605355
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kina...	ORPHA:266
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle weakness, Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1...	OMIM:616231
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Elevated circulating creatine kina...	OMIM:615424
Mitochondrial Myopathy With Diabetes	Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ragge...	OMIM:500002
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr...	OMIM:300695
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr...	OMIM:300696
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ...	OMIM:611588
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Elevated circulating...	OMIM:620386
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ...	OMIM:254110
Zebra Body Myopathy	Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Elevated circulating crea...	ORPHA:97240
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, F...	OMIM:616471
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Ventricular t...	OMIM:300257
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620286
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, Co...	OMIM:618654
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Elevated circulating creatine kinase concentration, Proximal muscle weakness	OMIM:606768
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Abdominal wall muscle weakness, Elevated circulating creatine kinase concentrat...	OMIM:618129
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak...	ORPHA:98896
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
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Neck flexor weakness, Fatty replacement of ...	ORPHA:171445
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat...	OMIM:601954
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:613204
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration...	ORPHA:254361
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Poor head control, Cardiac conduction abnormality, Gowe...	ORPHA:97244
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce...	OMIM:619024
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration...	ORPHA:424107
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
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, Elevated ...	OMIM:167320
Adult-Onset Nemaline Myopathy	Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr...	ORPHA:171442
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness...	OMIM:605637
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block, Progressi...	ORPHA:480
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Poor head control, Elevated circulating creatine kinase concentration, Proximal muscle weakness, ...	OMIM:300717
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ophthalmopl...	ORPHA:270
Welander Distal Myopathy	Distal amyotrophy, Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles	OMIM:604454
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Left ventric...	OMIM:612158
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Myopathy, Ragged-red muscle fibers, Muscle weakness	OMIM:545000
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ...	ORPHA:2593
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Fatty replacement o...	OMIM:255100
Atrial Standstill	Ventricular escape rhythm, Skeletal muscle atrophy, Cardiac conduction abnormality, Atrial stands...	ORPHA:1344
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Proximal muscle weakness, External ophthalmop...	OMIM:160565
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter...	ORPHA:1878
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Respiratory insuffi...	OMIM:300718
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Elevat...	OMIM:619733
Klhl9-Related Early-Onset Distal Myopathy	Progressive distal muscle weakness, Ankle flexion contracture, Intrinsic hand muscle atrophy, Abn...	ORPHA:399081
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98855
Myopathy, Myofibrillar, 2	Distal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffici...	OMIM:608810
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl...	OMIM:608423
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc...	OMIM:619042
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620138
Rhabdomyolysis, Susceptibility To, 1	Distal muscle weakness, Elevated circulating creatine kinase concentration, Centrally nucleated s...	OMIM:620235
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K...	OMIM:616313
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak...	OMIM:253601
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98853
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness...	OMIM:620285
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ...	OMIM:620265
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal muscle weakness, Proximal amyotrophy, Musc...	OMIM:614302
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Neck flexor weakness, Elevated circulating creatine kinase concentration, Proxi...	OMIM:603689
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due to muscle weakne...	OMIM:610687
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology...	ORPHA:598
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Myopathy,...	OMIM:300580
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra...	ORPHA:206599
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne...	ORPHA:34516
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P...	ORPHA:86812
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ragged-red muscle f...	OMIM:616924
Congenital Myopathy 14	Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex...	OMIM:618414
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:300376
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w...	OMIM:609284
Multifocal Motor Neuropathy	Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog...	ORPHA:641
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg...	OMIM:609286
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s...	OMIM:617072
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ...	OMIM:609283
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Elevated circulating creatine kinase concentration, Prox...	OMIM:611307
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Elevated cir...	OMIM:255160
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn...	OMIM:603034
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W...	OMIM:181400
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Proximal muscle weaknes...	OMIM:610717
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami...	OMIM:619178
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ...	ORPHA:2596
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Neck flexor weakness, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re...	OMIM:616209
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Elevated circulating c...	ORPHA:353327
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G...	OMIM:117000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth...	ORPHA:98897
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy, Muscle weakness	OMIM:616314
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s...	OMIM:617760
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F...	OMIM:620246
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Left ventricular hypertrophy, Atrial fibrillation, Prolonged PR interval	OMIM:108900
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn...	OMIM:619477
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Elevated circulating creat...	ORPHA:353
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Myopathy, Distal, 3	Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes...	OMIM:610099
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ...	OMIM:160500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Gowers sign, Calf muscle hypertrophy, Myopath...	ORPHA:119
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Gowers sign, Flexion...	OMIM:310440
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent...	ORPHA:206569
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers...	OMIM:616228
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal...	ORPHA:457050
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca...	OMIM:613507
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy	OMIM:613158
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg...	ORPHA:276435
Myopathy, Myofibrillar, 6	Scapular winging, Distal muscle weakness, Facial palsy, Restrictive cardiomyopathy, Elevated circ...	OMIM:612954
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Childhood-Onset Nemaline Myopathy	Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ...	ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Central Core Disease	Multiple joint contractures, Elevated circulating creatine kinase concentration, Respiratory insu...	ORPHA:597
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Dilated cardiomyop...	OMIM:602541
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog...	ORPHA:169186
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ...	ORPHA:57
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea...	OMIM:608627
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P...	OMIM:619518
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Nemaline Myopathy 8	Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc...	OMIM:615348
Nemaline Myopathy 2	Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont...	OMIM:256030
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Poor head control, Congestive heart failure, Flexion contracture, Axial ...	ORPHA:157973
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Oculopharyngodistal Myopathy 4	Distal muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ...	OMIM:619790
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration	OMIM:607091
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Distal muscle weakness, Neck flexor weakness, Elevated circulating creatine kin...	OMIM:601846
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Poor head control, Cardiomyopathy, Hypoalbumine...	OMIM:613752
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:248800
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Poor head control, Elevated circulating creatine kinase concentration, A...	ORPHA:300179
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht...	OMIM:605809
Myasthenic Syndrome, Congenital, 12	Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph...	OMIM:610542
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne...	ORPHA:254875
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ophthalmoplegia, Ragged-red muscle fibe...	OMIM:540000
Congenital Myopathy 2A, Typical, Autosomal Dominant	Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici...	OMIM:161800
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Nathalie Syndrome	Abnormal EKG, Skeletal muscle atrophy	OMIM:255990
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	OMIM:619473
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor...	OMIM:618138
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle...	OMIM:618823
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Skeletal muscle atrophy, Myopathy	ORPHA:2597
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Miyoshi Muscular Dystrophy 1	Distal muscle weakness, Elevated circulating creatine kinase concentration, Distal amyotrophy, Mu...	OMIM:254130
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ventricular t...	OMIM:212138
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak...	OMIM:615980
Dna2-Related Mitochondrial Dna Deletion Syndrome	Progressive external ophthalmoplegia, Multiple joint contractures, Gowers sign, Limb-girdle muscl...	ORPHA:352470
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Skelet...	OMIM:613157
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo...	OMIM:619897
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia	ORPHA:366
Congenital Myopathy 10A, Severe Variant	Poor head control, Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase co...	OMIM:614399
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Neck flexor weakness, Abdominal wall mu...	ORPHA:263297
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Poor head control, Flexion contracture, Generalized amyotrophy	OMIM:618323
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Skeletal muscle atrophy, Generalized muscle weakness, Increased variabi...	ORPHA:238329
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Progressive external ophthalmoplegia, Facial palsy, Elevated circulating creatine kinase concentr...	OMIM:610131
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology...	ORPHA:75840
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Hypokalemic Periodic Paralysis, Type 2	Episodic flaccid weakness, Myopathy, Hypokalemia	OMIM:613345
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P...	OMIM:613530
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Elevated circula...	OMIM:617069
Congenital Myopathy 15	Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi...	OMIM:620161
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox...	ORPHA:34515
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge...	ORPHA:368
Muscular Dystrophy, Congenital, With Or Without Seizures	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox...	OMIM:620166
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block	ORPHA:85447
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth...	OMIM:255320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Progressive external ophthalmoplegia, Elevated circulating creatine kinase concentration, Gowers ...	OMIM:615156
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Infantile Refsum Disease	Facial palsy, Progressive muscle weakness, Elevated circulating phytanic acid concentration, Card...	ORPHA:772
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox...	ORPHA:329478
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R...	OMIM:255310
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Facial palsy, Elevated circulating creatine kinase concentration, Respi...	OMIM:500009
Congenital Myopathy 3 With Rigid Spine	Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:602771
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl...	ORPHA:397744
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Hand muscle w...	ORPHA:254886
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:617066
Hypotonia, Infantile, With Psychomotor Retardation	Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber...	OMIM:616816
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi...	ORPHA:486815
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Glycogen Storage Disease Iii	Elevated circulating creatine kinase concentration, Hyperlipidemia, Myopathy, Distal amyotrophy, ...	OMIM:232400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Bulbar palsy, Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Flex...	OMIM:603511
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Increased circulating ferritin concentration, Progressive muscle weakness, Ragg...	OMIM:600462
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Generalized muscle weakness, Reduced left ventricular ejection fraction...	OMIM:614096
Myopathy, Centronuclear, 4	Abnormal circulating creatine kinase concentration, Muscle weakness, Type 1 muscle fiber predomin...	OMIM:614807
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati...	OMIM:300559
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
Hypokalemic Periodic Paralysis, Type 1	Episodic flaccid weakness, Myopathy, Hypokalemia, Muscle weakness	OMIM:170400
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Proximal muscle weakness	OMIM:551500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor...	OMIM:157640
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k...	OMIM:613954
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w...	ORPHA:171433
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Poor head control, Limb joint contracture, Bradycardia	OMIM:619814
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Cap Myopathy	Poor head control, Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Fat...	ORPHA:171881
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Elevated c...	OMIM:617070
Congenital Myopathy 16	Scapular winging, Distal muscle weakness, Proximal muscle weakness, Flexion contracture, Axial mu...	OMIM:618524
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154275
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Progressive external ophthalmoplegia, Elevated circulating creatine kinase concentration, Respira...	ORPHA:352447
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Elevated circulating creatine...	OMIM:301830
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Cardiomyop...	ORPHA:401768
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra...	OMIM:618484
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Abnormal muscle fiber morphology, Episodic flaccid weakness, Impaired myoca...	ORPHA:681
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati...	OMIM:255125
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Congestive heart failure, Ragged-red muscle fibers, Muscle weakness	OMIM:616794
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Kearns-Sayre Syndrome	Progressive external ophthalmoplegia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atri...	OMIM:530000
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We...	ORPHA:98913
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154276
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Conges...	ORPHA:682
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu...	ORPHA:1145
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement...	ORPHA:98908
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:607855
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness	OMIM:615511
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber mo...	ORPHA:79102
Typical Nemaline Myopathy	Neck flexor weakness, Facial palsy, Elevated circulating creatine kinase concentration, Fatigable...	ORPHA:171436
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:609560
Isolated Glycerol Kinase Deficiency	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:408
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Extremely elevated creatine kinase, Distal muscle weakness, Proximal muscle weakness, Upper limb ...	ORPHA:99939
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Myopathy, Centronuclear, 2	Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:255200
Coenzyme Q10 Deficiency, Primary, 1	Elevated circulating creatine kinase concentration, Progressive muscle weakness, Ragged-red muscl...	OMIM:607426
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Abnormal atr...	ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:618234
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Myopathy, Cardiomyopathy	ORPHA:26792
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy, Muscle weakness	ORPHA:2349
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Joint contracture of the 5th finger, Bradycardia, Atrioventricular block	OMIM:614407
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Generalized muscle weakness, Myopathy, Pulmonary arterial h...	OMIM:212350
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Muscle...	OMIM:160900
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Elevated circulating creatin...	ORPHA:26793
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn...	ORPHA:52430
Dk1-Cdg	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Progressive muscle weakness	ORPHA:91131
Vocal Cord And Pharyngeal Distal Myopathy	Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne...	ORPHA:600
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop...	OMIM:615959
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Achil...	OMIM:608840
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Hypophosphatasia, Childhood	Myopathy, Elevated plasma pyrophosphate	OMIM:241510
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter	OMIM:125250
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal...	OMIM:258450
Amyotrophic Lateral Sclerosis 21	Bulbar palsy, Distal muscle weakness, Elevated circulating creatine kinase concentration, Central...	OMIM:606070
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Noncompaction cardiomyopathy, Poor head control, Abnormal atrioventricul...	ORPHA:3208
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness	OMIM:614885
Carnitine Deficiency, Systemic Primary	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Congestive heart fa...	OMIM:212140
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Congenital diaphragmatic hernia, Progressive muscle weakness, Cutane...	OMIM:615919
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration	OMIM:261670
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228305
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca...	ORPHA:272
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Heart Block, Congenital	Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Cardiomyopathy, M...	OMIM:234700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak...	ORPHA:42
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Elevated circulating creatine kinase co...	OMIM:606612
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Poor head control, Hypoplasia of the musculature, Ankle flexion contracture, Res...	ORPHA:2020
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated creatine kinase after exercise, Sudden cardiac death, Elevated circulating acylcarnitine...	ORPHA:99901
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of...	ORPHA:596
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Familial Isolated Hypoparathyroidism	Myopathy, Arrhythmia, Hypocalcemia	ORPHA:2238
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys...	ORPHA:178148
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Progressive muscle wea...	OMIM:615512
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakness, Facial pals...	ORPHA:98915
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Axial Osteomalacia	Myopathy, Elevated circulating creatine kinase concentration, Proximal muscle weakness	OMIM:109130
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left ventricular noncompaction cardiomyopathy, Facial palsy, Elevated circulating creatine kinase...	OMIM:619424
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Proximal muscle weakness, Respiratory insu...	OMIM:254090
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy	OMIM:616549
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Proximal muscle weakness, Myopathy, Abnormal circulating creatine kinase concentration, Limb-gird...	ORPHA:369840
Mcleod Syndrome	Atrial fibrillation, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Dilated ...	OMIM:300842
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Right ventricular fa...	ORPHA:324604
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myopathy, Progressive proximal muscle weakness, Limb-girdle muscular dystrophy	ORPHA:369847
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ...	OMIM:164310
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:310200
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Lyme Disease	Arrhythmia, Atrioventricular block, Muscle weakness	ORPHA:91546
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f...	OMIM:620351
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration...	ORPHA:79240
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy, Progressive external ophthalmoplegia, Cardiomyopathy	ORPHA:1215
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Progressive proximal muscle weakness, Myopathy, Cardiomyopathy, Shoulder gi...	ORPHA:98907
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak...	OMIM:616239
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we...	OMIM:607459
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Glycogen Storage Disease Due To Acid Maltase Deficiency	Elevated circulating creatine kinase concentration, Gowers sign, Flexion contracture, Fatigable w...	ORPHA:365
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Rhabdomyolysis, Low-to-normal blood pressure, Syncope,...	ORPHA:358
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Congestive heart failure, Flexion contracture, Increased variability in ...	OMIM:616866
Myopathy, Myofibrillar, 8	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:617258
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase c...	OMIM:620326
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Elevated circulating creatine kina...	OMIM:616479
King-Denborough Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P...	OMIM:619542
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Generali...	OMIM:620278
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Progressive external ophthalmoplegia, Congestive heart failure, Dilated...	ORPHA:1349
Spinocerebellar Ataxia With Epilepsy	Hyperalaninemia, Myopathy, Ophthalmoparesis	ORPHA:254881
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Facial hypotonia, First degree atrioventricular block	ORPHA:589821
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration...	ORPHA:264580
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Muscle weakness	OMIM:300653
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Progressive distal muscle weakness, Congestive heart failure, Rhabdomyol...	ORPHA:746
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Hypertriglyceridemia, Congestive heart failure, Abnormality of ske...	ORPHA:79083
Carcinoid Syndrome	Tricuspid regurgitation, Right ventricular failure, Heart murmur, Myopathy, Palpitations, Facial ...	ORPHA:100093
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block	ORPHA:392
Immunoneurologic Disorder, X-Linked	Progressive proximal muscle weakness	OMIM:300076
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne...	ORPHA:257
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph...	ORPHA:169189
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Cardiac arrest, Myopathy, Increased variability in muscle fiber diamete...	OMIM:604377
Scleromyxedema	Distal muscle weakness, Transient ischemic attack, Elevated circulating creatine kinase concentra...	ORPHA:167635
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Hypokalemia, Left ventricular hypertrophy, Pu...	OMIM:615474
Arts Syndrome	Progressive muscle weakness	OMIM:301835
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Abnormality of skeletal muscle fiber size, Skelet...	ORPHA:2348
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy, Muscle weakness	ORPHA:166002
Leber Optic Atrophy	Myopathy, Arrhythmia	OMIM:535000
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Glutamate-Cysteine Ligase Deficiency	Myopathy	ORPHA:33574
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Muscle weakness, Hyperbilirubinemia	ORPHA:713
Myasthenic Syndrome, Congenital, 19	Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ...	OMIM:616720
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice...	OMIM:232800
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra...	OMIM:619461
Myotonic Dystrophy 2	Tachycardia, Neck flexor weakness, Elevated circulating creatine kinase concentration, Proximal m...	OMIM:602668
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy...	ORPHA:99845
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Myopathy, Abnormal circulating creatine kinase concentration, Muscular d...	ORPHA:559
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Flexion contracture, Abno...	ORPHA:367
Immunodeficiency 9	Respiratory insufficiency due to muscle weakness, Myopathy, Gowers sign, Proximal muscle weakness	OMIM:612782
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy, Hypertriglyceridemia, Hypertension	ORPHA:363400
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Diastasis recti, Progressive muscle weakness, Macroglossia, Pulmonic ste...	ORPHA:488632
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy	ORPHA:773
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Elevated circulating creatine kina...	OMIM:619743
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Neck flexor weakness, El...	ORPHA:268
Cystinosis	Portal hypertension, Myopathy, Hypokalemia, Hypophosphatemia, Muscle weakness	ORPHA:213
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Elevated circulating creatine kinase concentration, Hyperlipidemia, Increased mu...	ORPHA:565612
Combined Oxidative Phosphorylation Deficiency 33	Progressive external ophthalmoplegia, Cardiac arrest, Elevated circulating creatine kinase concen...	OMIM:617713
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:617021
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Elevated circulating creatine kinase concentration, External o...	ORPHA:254892
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	External ophthalmoplegia, Flexion contracture, Myopathy, Cardiomyopathy, Weakness of facial muscu...	OMIM:201470
Glycogen Storage Disease Xii	Elevated circulating creatine kinase concentration, Myopathy, Hyperbilirubinemia, Increased varia...	OMIM:611881
Stormorken Syndrome	Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid hemorrhage, Proximal ...	OMIM:185070
Chanarin-Dorfman Syndrome	Myopathy, Muscle weakness	OMIM:275630
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Hypokalem...	ORPHA:369929
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	External ophthalmoplegia, Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Facial hypotonia, Elevated circulating creatine kinase concentration, Proximal muscle weakness, R...	ORPHA:308552
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Proximal muscle weakness, Ragged-red muscle fibers, Dilated cardiomyopathy, Ophthalmoparesis, Inc...	ORPHA:70595
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diameter, Increased ...	ORPHA:502423
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities, Ophthalmoplegia, Muscle weakness	ORPHA:457365
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Abnormal blood potassium c...	ORPHA:684
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Progressive external ophthalmoplegia	OMIM:613077
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block	ORPHA:371428
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Myopathy, Limb mu...	OMIM:112250
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Ele...	OMIM:254940
Xanthinuria, Type I	Myopathy, Hyperxanthinemia	OMIM:278300
Muscle-Eye-Brain Disease	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:588
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormal cardiovascular system physiology, M...	ORPHA:79086
Oculogastrointestinal Muscular Dystrophy	External ophthalmoplegia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti...	ORPHA:280365
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228302
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest...	ORPHA:439
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan...	OMIM:612949
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Ophthalmoplegia, Myopathy, Weakness of facial musculature	ORPHA:98673
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:94090
Congenital Myasthenic Syndrome	Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i...	ORPHA:98914
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claud...	OMIM:259900
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Distal muscle weakness, Progressive muscle weakness	OMIM:256810
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:71
Immunodeficiency 10	Myopathy	OMIM:612783
Optic Atrophy 11	Facial diplegia, Increased variability in muscle fiber diameter, Mildly elevated creatine kinase,...	OMIM:617302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy, Elevated c...	OMIM:616538
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Hyperten...	ORPHA:1358
Melas	Wolff-Parkinson-White syndrome, Progressive external ophthalmoplegia, Cardiac conduction abnormal...	ORPHA:550
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Poor head control	OMIM:615595
Atrial Septal Defect 1	Second degree atrioventricular block, Aortic valve stenosis	OMIM:108800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Poor head control, Tricuspid regurgitation, Myopathy, Mitral regurgitati...	OMIM:614557
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli...	ORPHA:85450
Adrenomyodystrophy	Myopathy	ORPHA:977
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Mucopolysaccharidosis Type 3	Flexion contracture, Atrioventricular block, Macroglossia, Fatigable weakness of swallowing muscl...	ORPHA:581
Combined Oxidative Phosphorylation Deficiency 11	Myopathy, Cardiomyopathy	OMIM:614922
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ...	ORPHA:261476
Idiopathic Camptocormia	Myositis, Elevated circulating creatine kinase concentration, Fatigable weakness of skeletal musc...	ORPHA:1320
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ...	OMIM:617675
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Leptospirosis	Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage, Subconjunc...	ORPHA:509
Neuromuscular Oculoauditory Syndrome	Poor head control, Elevated circulating creatine kinase concentration, Knee flexion contracture, ...	OMIM:618733
Localized Scleroderma	Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Myopathy, Arrhythmia	ORPHA:90289
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Scimitar Syndrome	Left-to-right shunt, Abnormal hemidiaphragm morphology, Heart block, Congestive heart failure, Hy...	ORPHA:185
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Abdominal wall muscle weakness, Angina pectoris, Telangiectasia, Intracr...	ORPHA:109
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Elevated circulating creatine kinase c...	ORPHA:480864
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Distal muscle weakness, Congestive heart fa...	ORPHA:506
Leopard Syndrome 1	Bundle branch block, Scapular winging, Third degree atrioventricular block, Pulmonic stenosis, Hy...	OMIM:151100
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Sanjad-Sakati Syndrome	Myopathy, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hereditary Xanthinuria	Myopathy, Hypouricemia, Hyperxanthinemia	ORPHA:3467
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Congestive heart failure, Ophthalmoplegia, Decreased LDL...	ORPHA:14
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Generalized muscle weakness, Elbow flexion contr...	ORPHA:1900
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly	OMIM:619576
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Cardiomyopathy, Arrhythmia	ORPHA:228308
Meier-Gorlin Syndrome 7	Heart block, Second degree atrioventricular block	OMIM:617063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co...	OMIM:613150
Pseudoachondroplasia	Skeletal myopathy	ORPHA:750
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Scapular winging, Myocardial infarction, Aplasia/Hypoplasia of the abdominal...	ORPHA:500
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Cartilage-Hair Hypoplasia	Heart block, Cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:175
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Musculocontractural Ehlers-Danlos Syndrome	Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy, Muscle weakness	ORPHA:2953
Wolfram Syndrome	Gastrointestinal hemorrhage, Myopathy, Ophthalmoplegia, Cardiomyopathy	ORPHA:3463
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Elevated circulating crea...	ORPHA:800
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilated cardiomyopat...	OMIM:619573
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Vici Syndrome	Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa...	OMIM:242840
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, R...	ORPHA:17
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Proximal muscle weakness, Myocar...	ORPHA:221
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Myopathy, Mu...	ORPHA:536545
Lethal Congenital Contracture Syndrome 10	Macroglossia, Increased variability in muscle fiber diameter, Torticollis	OMIM:617022
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval	OMIM:614947
Glycerol Kinase Deficiency	Myopathy, Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia	OMIM:307030
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture	ORPHA:371364
Congenital Myopathy 17	Diaphragmatic eventration, Distal arthrogryposis, Myopathy	OMIM:618975
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Facial hypotonia, Macroglossia, Mitral regurgitation, Myopathy	ORPHA:309282
Lambert-Eaton Myasthenic Syndrome	Progressive proximal muscle weakness, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Myopathy, Mitral regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:612541
Mitochondrial Dna-Associated Leigh Syndrome	Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiac conduction...	ORPHA:255210
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia	ORPHA:2131
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary art...	OMIM:614008
Caribbean Parkinsonism	EMG: myopathic abnormalities, Orthostatic hypotension	ORPHA:97355
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities	ORPHA:2549
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Pulmonary insufficiency	OMIM:619322
Stromme Syndrome	Myopathy	OMIM:243605
Cystinosis, Nephropathic	Hyponatremia, Skeletal muscle atrophy, Reduced blood urea nitrogen, Hypophosphatemia, Myopathy, H...	OMIM:219800
Choreoacanthocytosis	Distal muscle weakness, Elevated circulating creatine kinase concentration, Peroneal muscle atrop...	ORPHA:2388
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Diastasis recti, Congestive h...	ORPHA:1686
Eisenmenger Syndrome	Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric...	ORPHA:97214
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Multiple Endocrine Neoplasia, Type Iib	Myopathy	OMIM:162300
Sarcoidosis	Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula...	ORPHA:797
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Camptodactyly of finger, Congenital diaphragmatic her...	ORPHA:373
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Right bundle branch block, Joint contracture, Camptodactyly, Hypertroph...	OMIM:617403
Williams Syndrome	Hypercalcemia, Sudden cardiac death, Myocardial infarction, Elevated circulating creatine kinase ...	ORPHA:904
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Pulmonic stenosis	OMIM:617506
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass	OMIM:234200
1P36 Deletion Syndrome	Myopathy, Dilated cardiomyopathy, Camptodactyly of finger, Telangiectasia	ORPHA:1606
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Knee flexion contracture, Right bundle branch bloc...	OMIM:617402
Pearson Syndrome	Cardiomyopathy, Cardiac conduction abnormality	ORPHA:699
Proteus Syndrome	Myofibrillar myopathy, Decreased muscle mass, Sudden cardiac death, Pulmonary embolism	ORPHA:744
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis	ORPHA:353277

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 Dmpk

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 Dmpk.

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

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MGI Allele	Allele Type	Produced
Dmpk^{tm78755(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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