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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 (652 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, Facial diplegia, First degree atrioventricular block, Atrial fibrillation, Muscle...	OMIM:160900
Congenital-Onset Steinert Myotonic Dystrophy		Facial hypotonia, Bundle branch block, 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	Cardiomyopathy, Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnorma...	OMIM:609452
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Ankle weakness, He...	ORPHA:98912
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Myopathy, Distal, 5	Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Mildly elevated creatine k...	OMIM:617030
Distal Myopathy With Anterior Tibial Onset	Finger flexor weakness, Abnormal circulating creatine kinase concentration, Intrinsic hand muscle...	ORPHA:178400
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Progr...	ORPHA:399103
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Progressive distal muscle weakness, Multiple joint contracture...	ORPHA:98911
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card...	ORPHA:59135
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit...	OMIM:310300
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Desminopathy	Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Fatigab...	ORPHA:98909
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri...	OMIM:181350
Distal Myopathy, Welander Type	Rimmed vacuoles, Distal upper limb muscle weakness, Mildly elevated creatine kinase, Distal upper...	ORPHA:603
Inclusion Body Myositis	Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg...	ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Nonaka Myopathy	Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir...	OMIM:605820
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva...	OMIM:609115
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Congenital Myopathy 24	Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl...	OMIM:617336
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Nemaline Myopathy 6	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Elevated circulating cr...	OMIM:609273
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Polyglucosan Body Myopathy 2	Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe...	OMIM:616199
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy, Elevated circulating creatine kinase ...	OMIM:609500
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus...	ORPHA:399096
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Congenital Myopathy 10B, Mild Variant	Increased variability in muscle fiber diameter, Neck muscle weakness, Limb muscle weakness, Type ...	OMIM:620249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal...	OMIM:618848
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Bethlem Myopathy 1A	Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra...	OMIM:158810
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Ele...	OMIM:609524
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa...	OMIM:618940
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Finnish Upper Limb-Onset Distal Myopathy	Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Progressive dist...	ORPHA:399086
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Inclusion Body Myositis	Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness	OMIM:147421
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro...	ORPHA:98902
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Myopathy, Vacuolar, With Casq1 Aggregates	Proximal muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakne...	OMIM:616231
Scapuloperoneal Myopathy, X-Linked Dominant	Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus...	OMIM:300695
Mitochondrial Myopathy With Diabetes	Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc...	OMIM:500002
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr...	OMIM:300696
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Elevated circulating creatine kinase co...	OMIM:611588
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Ophthalmoparesis, Congestive heart failure, Muscl...	OMIM:618654
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Zebra Body Myopathy	Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus...	ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co...	OMIM:616471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Danon Disease	Limb muscle weakness, Proximal muscle weakness, Skeletal muscle autophagosome accumulation, Hyper...	OMIM:300257
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,...	OMIM:302045
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Myopathy, Distal, With Anterior Tibial Onset	Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase concentration	OMIM:606768
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator...	ORPHA:663
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Prox...	ORPHA:98896
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy, Myopathy	OMIM:212130
Carnitine Deficiency, Myopathic	Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy	OMIM:212160
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur...	ORPHA:254361
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild...	ORPHA:171445
Rigid Spine Syndrome	Skeletal muscle atrophy, Elbow flexion contracture, Neck muscle weakness, Hamstring contractures,...	ORPHA:97244
Adult-Onset Nemaline Myopathy	Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce...	OMIM:619024
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:620402
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
Kearns-Sayre Syndrome	Progressive external ophthalmoplegia, Third degree atrioventricular block, Skeletal muscle atroph...	ORPHA:480
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic card...	OMIM:612158
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness	OMIM:604454
Oculopharyngeal Muscular Dystrophy	Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent...	ORPHA:270
Atrial Standstill	Atrial standstill, Muscular dystrophy, Skeletal muscle atrophy, Abnormal P wave, Cardiomyopathy, ...	ORPHA:1344
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating creatine kinase conc...	OMIM:255100
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig...	ORPHA:2593
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs...	ORPHA:1878
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre...	OMIM:160565
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:619733
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Muscle weakness, Increased serum pyruvate, Ragged-red muscle fibers, Myopathy	OMIM:545000
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Progressive distal...	ORPHA:399081
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98855
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction, Left ventricular noncompaction cardiomy...	OMIM:604169
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:620235
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty...	OMIM:619042
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy...	OMIM:608423
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Congenital Myopathy With Myasthenic-Like Onset	Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Fatig...	ORPHA:424107
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc...	OMIM:620285
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck...	OMIM:614302
Nemaline Myopathy 7	Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m...	OMIM:610687
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev...	OMIM:613204
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98863
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre...	OMIM:151800
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617072
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respirator...	OMIM:300580
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat...	OMIM:300376
Congenital Myopathy 4B, Autosomal Recessive	Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop...	OMIM:609284
Multifocal Motor Neuropathy	Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Weakness o...	ORPHA:641
Oculopharyngeal Muscular Dystrophy 1	Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creati...	OMIM:164300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progres...	OMIM:609286
Bethlem Muscular Dystrophy	Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy...	ORPHA:610
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy	OMIM:208100
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc...	ORPHA:457050
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Myasthenic Syndrome, Congenital, 5	Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ...	OMIM:603034
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci...	OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent...	OMIM:611307
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ...	OMIM:181400
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak...	ORPHA:2596
Oculopharyngodistal Myopathy	Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Dis...	ORPHA:98897
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	OMIM:619216
Myopathy, Myofibrillar, 6	Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy...	OMIM:612954
Congenital Myasthenic Syndromes With Glycosylation Defect	Gowers sign, Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red m...	ORPHA:353327
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:601493
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ...	OMIM:616209
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Muscle weakness, Myopathy	OMIM:616314
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia...	OMIM:619477
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:620246
Multiminicore Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w...	ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618992
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Left ventricular hypertrophy, Prolonged PR interval	OMIM:108900
Myopathy, Distal, 3	Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele...	OMIM:610099
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Elevated circulating cr...	ORPHA:119
Atrial Septal Defect, Ostium Primum Type	Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ...	ORPHA:99106
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb...	ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi...	ORPHA:206569
Leber Hereditary Optic Neuropathy	Arrhythmia, Retinal telangiectasia, Myopathy, Ventricular preexcitation	ORPHA:104
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:276435
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph...	OMIM:160500
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in...	OMIM:160150
Glycogen Storage Disease Xv	Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular ...	OMIM:613507
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy	OMIM:613158
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration	OMIM:160570
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va...	OMIM:619518
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval	ORPHA:542306
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ...	OMIM:620542
Central Core Disease	Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin...	ORPHA:597
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Glycogen Storage Disease Due To Aldolase A Deficiency	Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ...	ORPHA:57
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele...	OMIM:602541
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe...	ORPHA:169186
Merrf	Ragged-red muscle fibers, Myopathy	ORPHA:551
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe...	OMIM:615422
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Axial muscle weakness, Arrhythmia, P...	ORPHA:157973
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ...	ORPHA:206559
Nemaline Myopathy 2	Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness...	OMIM:256030
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Nemaline Myopathy 8	Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Musc...	OMIM:615348
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration	OMIM:607091
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ophthalmoparesis, Skeletal muscle atrophy, Myopathy, Generalized muscle weakness, Weakness of fac...	ORPHA:254875
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne...	OMIM:619790
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ...	OMIM:601846
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Arterial rupture, Myopathy, Elevated circulating creatine kinase concent...	ORPHA:300179
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat...	OMIM:613752
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E...	OMIM:248800
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle...	OMIM:605809
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Late-onset distal muscle weakness, Dilated cardiomyopathy, Mildly elevated creat...	OMIM:161800
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Left ventricular h...	OMIM:540000
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ...	ORPHA:254864
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi...	OMIM:618823
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi...	ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Myasthenic Syndrome, Congenital, 12	Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu...	OMIM:610542
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat...	ORPHA:397744
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Skeletal muscle atrophy, Myopathy	ORPHA:2597
Acetyl-Coa Carboxylase-Alpha Deficiency	Myopathy	OMIM:613933
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl...	OMIM:620068
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip...	OMIM:615980
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Myopathy, Progressive external ophthalmoplegia, Limb-girdle muscle w...	ORPHA:352470
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim...	OMIM:254130
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia	ORPHA:366
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Elevated circulating cre...	OMIM:614399
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Rhabdomyolysis, Elevated cir...	OMIM:212138
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred...	OMIM:620161
Myasthenic Syndrome, Congenital, 25, Presynaptic	Poor head control, Flexion contracture, Myopathy, Generalized amyotrophy	OMIM:618323
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Limb muscle weakness, Elevated circulating creatine kinase concentration, P...	OMIM:610131
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	ORPHA:75840
Amyotrophic Lateral Sclerosis 8	Distal amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness...	OMIM:608627
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy...	ORPHA:238329
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Muscular Dystrophy, Limb-Girdle, Type 1H	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E...	OMIM:613530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253700
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Proximal muscle weakness	OMIM:551500
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird...	ORPHA:263494
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Generalized muscle weakness, ...	OMIM:255310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Ophthalmoparesis, Shoulder girdle muscle weakness, Myopathy, Elevated circulating creatine kinase...	OMIM:615156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra...	OMIM:617069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Muscular Dystrophy, Congenital, With Or Without Seizures	Proximal muscle weakness, Elevated circulating creatine kinase concentration, Progressive muscle ...	OMIM:620166
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Elevated circulating creati...	ORPHA:368
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation...	OMIM:613205
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617066
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent...	OMIM:123320
Infantile Refsum Disease	Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhythmia, Progressive muscle ...	ORPHA:772
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Autosomal Recessive Progressive External Ophthalmoplegia	External ophthalmoplegia, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red ...	ORPHA:254886
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Neck muscle weakness, Increased muscle lipid conte...	OMIM:500009
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating ferritin concentration, Generalized limb muscle atrophy, Ragged-red muscle ...	OMIM:600462
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Glycogen Storage Disease Iii	Distal amyotrophy, Cardiomyopathy, Hyperlipidemia, Myopathy, Elevated circulating creatine kinase...	OMIM:232400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Eleva...	ORPHA:352447
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T...	OMIM:614807
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle...	OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 25	Nemaline bodies, Myopathy	OMIM:618246
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia, Episodic flaccid weakness, Muscle weakness, Myopathy	OMIM:170400
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Elevated circu...	OMIM:603511
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L...	OMIM:157640
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Cardiomyopathy, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder ...	ORPHA:98908
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Developmental And Epileptic Encephalopathy 101	Poor head control, Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure	ORPHA:91130
Cap Myopathy	Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Fa...	ORPHA:171881
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr...	ORPHA:369840
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Congenital Myopathy 16	Proximal muscle weakness, Axial muscle weakness, Scapular winging, Flexion contracture, Distal mu...	OMIM:618524
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Malignant Hyperthermia, Susceptibility To, 2	Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind...	OMIM:154275
Postsynaptic Congenital Myasthenic Syndromes	Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul...	ORPHA:98913
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Elev...	OMIM:617070
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Myopathy, Spinal muscular atrophy, Elevated circulating creatine kin...	OMIM:301830
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Myopathy	ORPHA:1369
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Facial diplegia, Foot dor...	ORPHA:329478
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Palpit...	OMIM:255125
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Ophthalmoparesis, Second degree atrioventricular block, Lower limb muscle w...	ORPHA:79102
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Malignant Hyperthermia, Susceptibility To, 3	Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind...	OMIM:154276
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Myopathy Due To Myoadenylate Deaminase Deficiency	Rhabdomyolysis, Skeletal muscle atrophy, Muscle weakness, Myopathy	OMIM:615511
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Progressive extern...	OMIM:530000
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ragged-red muscle fibers, Myopathy	OMIM:618242
Hyperkalemic Periodic Paralysis	Ophthalmoparesis, Skeletal muscle atrophy, Congestive heart failure, Episodic flaccid weakness, M...	ORPHA:682
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo...	ORPHA:171436
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Ragged-red muscle fibers, Muscle weakness, Congestive heart failure	OMIM:616794
Isolated Glycerol Kinase Deficiency	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:408
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki...	OMIM:609560
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Fac...	ORPHA:370980
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Extremely elevated cre...	ORPHA:99939
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Gowers sign, Proximal muscle weakness, Axial muscle w...	OMIM:255200
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido...	ORPHA:98905
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase conce...	OMIM:607426
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne...	ORPHA:329336
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:401768
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome	OMIM:618234
Sengers Syndrome	Hypertrophic cardiomyopathy, Myopathy, Generalized muscle weakness, Pulmonary arterial hypertensi...	OMIM:212350
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Muscle weakness, Myopathy, Skeletal muscle hypertrophy	ORPHA:2349
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Myopathy	ORPHA:26792
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat...	OMIM:615418
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Flexion contracture, Myopathy	OMIM:618237
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ...	OMIM:607855
Myotonic Dystrophy 1	Atrial flutter, Facial diplegia, First degree atrioventricular block, Atrial fibrillation, Muscle...	OMIM:160900
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene...	ORPHA:171433
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Joint contracture of the 5th finger, Bradycardia	OMIM:614407
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Exer...	ORPHA:26793
Dk1-Cdg	Progressive muscle weakness, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	ORPHA:91131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin...	OMIM:608840
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati...	ORPHA:52430
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine...	OMIM:615959
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card...	OMIM:617228
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Myopathy	OMIM:241510
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro...	OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Myopathy	OMIM:618236
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia	OMIM:125250
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, External ophthalmoplegia, Distal amyotrophy, Skeletal muscl...	ORPHA:3208
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness	OMIM:614885
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc...	OMIM:606612
Glycogen Storage Disease X	Rhabdomyolysis, Myopathy, Elevated circulating creatine kinase concentration	OMIM:261670
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine...	ORPHA:228305
Ataxia-Telangiectasia-Like Disorder 2	Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjunctival telangiectasia, Progressi...	OMIM:615919
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Mildly e...	OMIM:258450
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hyperammonemia, Myopathy, Elevated circulating creatine kinase concentra...	ORPHA:42
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac...	ORPHA:178148
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ...	ORPHA:272
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c...	ORPHA:99901
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellula...	ORPHA:681
Timothy Syndrome	Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B...	OMIM:601005
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Weakness of muscles of respiration, Sho...	ORPHA:2020
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ...	ORPHA:596
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Progressive muscle weakness, Respira...	OMIM:615512
Familial Isolated Hypoparathyroidism	Arrhythmia, Hypocalcemia, Myopathy	ORPHA:2238
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber...	OMIM:608340
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged...	OMIM:614049
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori...	ORPHA:398124
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Synaptic Congenital Myasthenic Syndromes	Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus...	ORPHA:98915
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath...	OMIM:619424
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac...	OMIM:616470
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Axial Osteomalacia	Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase concentration	OMIM:109130
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont...	ORPHA:536516
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal...	OMIM:164310
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myopathy	OMIM:158800
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur...	OMIM:609015
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Myopathy	OMIM:201550
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Muscle weakness, Cardiomyopathy, Congestive heart fai...	OMIM:310200
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,...	OMIM:616867
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Progressive proximal muscle weakness, Myopathy	ORPHA:369847
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Cardiomyopathy, Myopathy	OMIM:616549
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina...	OMIM:254090
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Rhabdomyolysis, Myopathy, Reduced haptoglobin level, Elev...	OMIM:300842
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, Shoulder girdle muscle weakness, Abnormal circulating creatine kinase concentrati...	ORPHA:98907
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ...	OMIM:115195
Myopathy, Myofibrillar, 8	Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we...	OMIM:617258
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation...	OMIM:616201
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Right ventricular failure, Tricusp...	ORPHA:100093
Classic Multiminicore Myopathy	Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In...	ORPHA:324604
Autosomal Dominant Optic Atrophy Plus Syndrome	Progressive external ophthalmoplegia, Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase...	OMIM:616239
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Prog...	ORPHA:79240
Lyme Disease	Arrhythmia, Muscle weakness, Atrioventricular block	ORPHA:91546
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exter...	OMIM:607459
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl...	OMIM:619542
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Cardiomyopathy, Congestiv...	OMIM:616866
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v...	OMIM:608751
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, Diaphragmatic weakness, EMG: myopathic abnormalities, Elevated circu...	OMIM:620326
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment depression, Syncope, ...	ORPHA:358
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Generalized muscle weakness, Gowers sign, Fatigable weakness of swall...	ORPHA:365
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Ophthalmoparesis, Skeletal muscle atrophy, Lower limb muscle weakness, Ragged-red muscle fibers, ...	OMIM:616479
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Spinocerebellar Ataxia With Epilepsy	Ophthalmoparesis, Hyperalaninemia, Myopathy	ORPHA:254881
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Scleromyxedema	Transient ischemic attack, Abnormal skeletal muscle morphology, Myopathy, Elevated circulating cr...	ORPHA:167635
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Congenital-Onset Steinert Myotonic Dystrophy	Facial hypotonia, Bundle branch block, First degree atrioventricular block	ORPHA:589821
Phosphoglycerate Kinase 1 Deficiency	Rhabdomyolysis, Muscle weakness, Myopathy	OMIM:300653
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Prog...	ORPHA:264580
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Hyperuricemia, Hypertriglyceride...	ORPHA:79083
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Pr...	ORPHA:746
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ophthalmoparesis, Muscle flaccidity, Oculomotor nerve palsy, Fatigable weakness, Myopathy, Ophtha...	ORPHA:257
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block	ORPHA:392
Immunoneurologic Disorder, X-Linked	Progressive proximal muscle weakness	OMIM:300076
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Leber Optic Atrophy	Arrhythmia, Myopathy	OMIM:535000
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myopathy, Cardiac ar...	OMIM:604377
Arts Syndrome	Progressive muscle weakness	OMIM:301835
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Dilated cardiomyopa...	ORPHA:273
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Glutamate-Cysteine Ligase Deficiency	Myopathy	ORPHA:33574
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy	ORPHA:1177
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Muscle weakness, Myopathy	ORPHA:166002
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Left ventri...	OMIM:615474
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:261740
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Hypertriglyceridemia, Abnormalit...	ORPHA:2348
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Rhabdomyolysis, Muscle weakness, Myopathy	ORPHA:713
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract...	OMIM:619461
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ...	OMIM:616720
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Elevated circulatin...	OMIM:602668
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Marinesco-Sjögren Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:559
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Porta...	ORPHA:367
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Muscle weakness, Limb muscle weakness, Shortened PR interval, El...	OMIM:232300
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Myopathy, Hypertriglyceridemia	ORPHA:363400
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Malignant Hyperthermia Of Anesthesia	Necrotizing myopathy, Hyperphosphatemia, Exercise-induced rhabdomyolysis, High-output congestive ...	ORPHA:423
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Increased total bilirubin, Hyperuricemia, Elevate...	OMIM:232800
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Abnormal circulating lipid concentration, Diastasis recti, Progressive m...	ORPHA:488632
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Progressive externa...	OMIM:617713
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypomagnesemia, Hypophosphatemic ricke...	OMIM:619743
Cystinosis	Portal hypertension, Myopathy, Hypokalemia, Hypophosphatemia, Muscle weakness	ORPHA:213
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Abnormality of the shoulder girdle musculature, Palpitations, Hy...	ORPHA:565612
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Neck muscle weakness, Increased muscle lipid content, Myopathy, Elevated circulat...	OMIM:610717
Refsum Disease	Skeletal muscle atrophy, Cardiomyopathy, Heart block	ORPHA:773
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	ORPHA:268
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine...	ORPHA:157
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Fabry Disease	Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart failure, Hyper...	ORPHA:324
Autosomal Dominant Progressive External Ophthalmoplegia	External ophthalmoplegia, Ophthalmoparesis, Dilated cardiomyopathy, Quadriceps muscle weakness, S...	ORPHA:254892
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A...	ORPHA:600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block	OMIM:617021
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	External ophthalmoplegia, Cardiomyopathy, Myopathy, Weakness of facial musculature, Flexion contr...	OMIM:201470
Chanarin-Dorfman Syndrome	Muscle weakness, Myopathy	OMIM:275630
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Hypokalemia, Pulmonary arterial hypertension, In...	ORPHA:369929
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Stormorken Syndrome	Epistaxis, Myopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentration...	OMIM:185070
Barth Syndrome	Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,...	OMIM:302060
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Hyperbilirubinemia, Myopathy, Reduced haptoglobin...	OMIM:611881
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture, External ophthalmoplegia	OMIM:619026
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita	OMIM:619334
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Muscle weakness, Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Elevated circu...	ORPHA:308552
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ophthalmoparesis, Dilated cardiomyopathy, Ragged-...	ORPHA:70595
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Ophthalmoplegia, EMG: myopathic abnormalities, Muscle weakness	ORPHA:457365
Oculogastrointestinal Muscular Dystrophy	External ophthalmoplegia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Mildly elevated creatine kinase, Weakness of faci...	ORPHA:502423
Paramyotonia Congenita Of Von Eulenburg	Abnormal blood potassium concentration, EMG: myopathic abnormalities, Cold paresis, Facial muscle...	ORPHA:684
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Hypertension	ORPHA:371428
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Progressive external ophthalmoplegia, Myopathy	OMIM:613077
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Proximal muscle weakness, Limb-girdle mu...	OMIM:112250
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Oculomotor nerve palsy, Pectoralis hypopl...	OMIM:254940
Muscle-Eye-Brain Disease	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:588
Acquired Generalized Lipodystrophy	Cardiomyopathy, Abnormal circulating lipid concentration, Abnormal cardiovascular system physiolo...	ORPHA:79086
Immunodeficiency 9	Gowers sign, Respiratory insufficiency due to muscle weakness, Myopathy, Proximal muscle weakness	OMIM:612782
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Decr...	ORPHA:280365
Caribbean Parkinsonism	EMG: myopathic abnormalities, Orthostatic hypotension	ORPHA:97355
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Xanthinuria, Type I	Hypouricemia, Hyperxanthinemia, Myopathy	OMIM:278300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Myopathy, Weakness of facial musculature, Ophthalmoplegia, Scapular winging	ORPHA:98673
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:300219
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh...	OMIM:620066
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Poor head control, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominan...	OMIM:612949
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness...	ORPHA:98914
Congenital Left Ventricular Aneurysm	Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Progressive muscle weakness, Skeletal muscle atrophy, Distal muscle weakness	OMIM:256810
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-...	ORPHA:99104
Optic Atrophy 11	Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Facial diplegia,...	OMIM:617302
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated c...	OMIM:616538
Melas	Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card...	ORPHA:550
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Hyperoxaluria, Intermittent claudication, Raynaud phe...	OMIM:259900
Carey-Fineman-Ziter Syndrome	Hypertensive crisis, Skeletal muscle atrophy, Myopathy, Facial palsy, Aplasia of the pectoralis m...	ORPHA:1358
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Chylomicron Retention Disease	Hypocholesterolemia, EMG: myopathic abnormalities, Myopathy	ORPHA:71
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced left ventricular ejection fraction, Macroglossia, Flexion contrac...	ORPHA:581
Atrial Septal Defect 1	Aortic valve stenosis, Second degree atrioventricular block	OMIM:108800
Combined Oxidative Phosphorylation Deficiency 19	Poor head control, Increased variability in muscle fiber diameter	OMIM:615595
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Elevated circulating creatinine concentrat...	ORPHA:85450
Adrenomyodystrophy	Myopathy	ORPHA:977
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat...	ORPHA:1880
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance	OMIM:619173
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Myopathy	OMIM:614922
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Tricuspid regurgitation, Type 1 muscle fiber predominance, Mitral regurg...	OMIM:614557
Xp21 Deletion Syndrome	Decreased muscle mass, Myopathy, Elevated circulating creatine kinase concentration, Calf muscle ...	ORPHA:261476
Localized Scleroderma	Vasculitis, Skeletal muscle atrophy, Myopathy, Arrhythmia, Raynaud phenomenon, Flexion contracture	ORPHA:90289
Native American Myopathy	Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality...	ORPHA:168572
Idiopathic Camptocormia	Fatigable weakness of skeletal muscles, Proximal spinal muscular atrophy, Abnormal muscle fiber d...	ORPHA:1320
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Elevated circulating creatine kinase concentration, Wrist flexion contr...	OMIM:618733
Leptospirosis	Hypotension, Pulmonary hemorrhage, Rhabdomyolysis, Arrhythmia, First degree atrioventricular bloc...	ORPHA:509
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Muscle weakness, Elevated circ...	OMIM:617675
Usher Syndrome	Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy	ORPHA:886
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Muscle weakness, Myopathy, Telangiectasia, Angina pectoris, Intracranial...	ORPHA:109
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Abnormal EKG, Hyperammonemia, Elevated circulat...	ORPHA:480864
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Congestive heart failure, Hypoplasia of the diaphragm, Pulmona...	ORPHA:185
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe...	ORPHA:93672
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Scapular w...	OMIM:151100
Leigh Syndrome	Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co...	ORPHA:506
Hereditary Xanthinuria	Hypouricemia, Hyperxanthinemia, Myopathy	ORPHA:3467
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, Abnormal cir...	ORPHA:14
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Myopathy	ORPHA:2323
Intellectual Developmental Disorder With 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	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Muscle weakness, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arte...	ORPHA:1900
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Camptodactyly, Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation	OMIM:619576
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Arrhythmia, Cardiomyopathy, Heart block	ORPHA:228308
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Immunodeficiency 10	Myopathy	OMIM:612783
Cartilage-Hair Hypoplasia	Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, Heart block	ORPHA:175
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Aplasia/Hypoplasia of the abdominal...	ORPHA:500
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Heart block	OMIM:617063
Pseudoachondroplasia	Skeletal myopathy	ORPHA:750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Eleva...	OMIM:613150
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block	ORPHA:416
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Hypokalemia, Pulmonary arterial hype...	OMIM:619573
Musculocontractural Ehlers-Danlos Syndrome	Myopathy, Arthrogryposis multiplex congenita, Muscle weakness, Decreased muscle mass	ORPHA:2953
Wolfram Syndrome	Ophthalmoplegia, Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy	ORPHA:3463
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Hip contractu...	ORPHA:800
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su...	ORPHA:2299
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Elevated circulating ...	OMIM:242840
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertrophic cardiomyopa...	ORPHA:17
Dermatomyositis	Vasculitis, Sinus tachycardia, Inflammatory myopathy, Elevated circulating creatine kinase concen...	ORPHA:221
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Subdural hemorrhage, Arterial rupture, Myopathy, Cerebral hemorrhage, An...	ORPHA:536545
Combined Oxidative Phosphorylation Deficiency 15	Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval	OMIM:614947
Congenital Myopathy 17	Distal arthrogryposis, Myopathy, Diaphragmatic eventration	OMIM:618975
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Elbow flexion contracture, Knee flexion contracture, EMG: myopathic abnormalities, Hip contracture	ORPHA:371364
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Macroglossia, Torticollis	OMIM:617022
Interatrial Communication	Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ...	ORPHA:1478
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Mitral regurgitation, Myopathy, Facial hypotonia, Macroglossia	ORPHA:309282
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Lambert-Eaton Myasthenic Syndrome	Orthostatic hypotension due to autonomic dysfunction, Progressive proximal muscle weakness	ORPHA:43393
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pulmonic stenosis, Pulmonary arterial hypertension, Mitral regurgitation, Myopathy	OMIM:612541
Glycerol Kinase Deficiency	Hyperglycerolemia, Muscular dystrophy, Myopathy, Hypertriglyceridemia	OMIM:307030
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi...	OMIM:614008
Mitochondrial Dna-Associated Leigh Syndrome	Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-red m...	ORPHA:255210
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia	ORPHA:2131
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Right bundle branch block	OMIM:619322
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities	ORPHA:2549
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Skeletal muscle atrophy, Hypomagnesemia, Hypophosp...	OMIM:219800
Stromme Syndrome	Myopathy	OMIM:243605
Choreoacanthocytosis	Peroneal muscle atrophy, Distal amyotrophy, Dilated cardiomyopathy, Muscle fiber atrophy, Myopath...	ORPHA:2388
Cardiac Diverticulum	Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Diastasis recti, Mit...	ORPHA:1686
Eisenmenger Syndrome	Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr...	ORPHA:97214
Crimean-Congo Hemorrhagic Fever	Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival...	ORPHA:99827
Holt-Oram Syndrome	Small hypothenar eminence, Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy...	OMIM:142900
Multiple Endocrine Neoplasia, Type Iib	Myopathy	OMIM:162300
Sarcoidosis	Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ...	ORPHA:797
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Congenital diaphragmatic hernia, Ap...	ORPHA:373
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Joint contracture, Camptodactyly, Right bu...	OMIM:617403
Williams Syndrome	Abnormal circulating lipid concentration, Congestive heart failure, Hypertrophic cardiomyopathy, ...	ORPHA:904
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b...	OMIM:617506
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
1P36 Deletion Syndrome	Telangiectasia, Dilated cardiomyopathy, Myopathy, Camptodactyly of finger	ORPHA:1606
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass	OMIM:234200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Flexion contracture, Hip contracture, Myopathy	ORPHA:3042
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Knee flexion contracture, Camptodactyly, Right bun...	OMIM:617402
Pearson Syndrome	Cardiac conduction abnormality, Cardiomyopathy	ORPHA:699
Proteus Syndrome	Myofibrillar myopathy, Sudden cardiac death, Pulmonary embolism, Decreased muscle mass	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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