Gene Summary

Name:
dystrophin, muscular dystrophy
Synonyms:
Dp71,  Dp427,  X-linked muscular dystrophy,  pke,  mdx,  Duchenne muscular dystrophy,  dys

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating serum albumin level Dmdem1(IMPC)Hmgu HOM Early adult 2.35×10-06
increased lean body mass Dmdem1(IMPC)Hmgu HEM Early adult 2.85×10-06
increased circulating total protein level Dmdem1(IMPC)Hmgu HOM Early adult 1.44×10-06
increased circulating aspartate transaminase level Dmdem1(IMPC)Hmgu HEM Early adult 0.00
increased circulating alanine transaminase level Dmdem1(IMPC)Hmgu HEM Early adult 3.36×10-07
decreased total body fat amount Dmdem1(IMPC)Hmgu HEM Early adult 2.15×10-05
increased circulating aspartate transaminase level Dmdem1(IMPC)Hmgu HOM Early adult 0.00
decreased grip strength Dmdem1(IMPC)Hmgu HOM Early adult 1.74×10-05
decreased mean corpuscular hemoglobin Dmdem1(IMPC)Hmgu HOM Early adult 9.66×10-05
decreased mean corpuscular volume Dmdem1(IMPC)Hmgu HEM Early adult 1.82×10-12
decreased bone mineral content Dmdem1(IMPC)Hmgu HOM Early adult 9.10×10-13
increased red blood cell distribution width Dmdem1(IMPC)Hmgu HOM Early adult 3.27×10-08
abnormal bone structure Dmdem1(IMPC)Hmgu HEM Early adult 4.99×10-05
increased circulating alanine transaminase level Dmdem1(IMPC)Hmgu HOM Early adult 0.00
abnormal bone structure Dmdem1(IMPC)Hmgu HOM Early adult 0.00
increased lean body mass Dmdem1(IMPC)Hmgu HOM Early adult 5.22×10-15
decreased total body fat amount Dmdem1(IMPC)Hmgu HOM Early adult 2.75×10-11
increased circulating alkaline phosphatase level Dmdem1(IMPC)Hmgu HOM Early adult 3.95×10-05
decreased mean corpuscular volume Dmdem1(IMPC)Hmgu HOM Early adult 3.24×10-07
thrombocytosis Dmdem1(IMPC)Hmgu HOM Early adult 7.68×10-10

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Dmd mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration OMIM:160570
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... OMIM:613530
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Vacuolar, With Casq1 Aggregates
Proximal muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakne... OMIM:616231
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Distal upper limb muscle weakness, Quadriceps muscle weakness, Elevated circu... OMIM:613319
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:608807
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
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
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulating creatine kinase concentration OMIM:616094
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Elevated circulating cre... OMIM:617232
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... OMIM:614807
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Myopathy, Weakness of facial... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... OMIM:611307
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Neck muscle weakness, Proximal muscle weakness, Elevated circulating creatine... OMIM:612998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:253600
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy OMIM:254100
Muscular Dystrophy, Hemizygous Lethal Type
Limb-girdle muscular dystrophy OMIM:309950
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... OMIM:610099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration... OMIM:613818
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... OMIM:609115
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Skeletal muscle hypertrophy OMIM:600332
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Elevated circul... OMIM:604286
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... OMIM:601287
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... OMIM:605820
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Percussio... ORPHA:34516
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
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa... ORPHA:611
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... OMIM:160800
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Distal Myopathy, Welander Type
Rimmed vacuoles, Mildly elevated creatine kinase, Distal upper limb amyotrophy, Foot dorsiflexor ... ORPHA:603
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Chest pain, Calf muscle hypertrophy,... ORPHA:263494
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Elevated circu... OMIM:603511
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Generalized muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613152
Nemaline Myopathy 6
Nemaline bodies, Exercise intolerance, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, E... OMIM:609273
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase ... OMIM:609500
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Facial palsy, Scapular winging, Pel... OMIM:158901
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Limb-gird... OMIM:609308
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated cir... OMIM:604801
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ... OMIM:607855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration OMIM:613158
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Exercise intolerance, Cardiomyopathy, Elevated circulating creatine kinase co... OMIM:615352
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... OMIM:616209
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red musc... OMIM:500002
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ... ORPHA:684
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... OMIM:609524
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph... ORPHA:267
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness OMIM:614369
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Myotonia OMIM:254950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Myotonia Congenita, Autosomal Recessive
Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic runs, Muscle hyper... OMIM:255700
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Muscle fibe... OMIM:613205
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle weakness, Elevated circulating creatine... OMIM:300376
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Muscular dystrophy OMIM:254000
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
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
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creati... OMIM:164300
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... ORPHA:62
Myositis
Myositis, Proximal muscle weakness OMIM:160750
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myotonia, Myopathy OMIM:158800
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Elevated circulating creatine kinase co... OMIM:611588
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Focal Myositis
Myositis, Muscle weakness, Elevated circulating creatine kinase concentration ORPHA:48918
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... ORPHA:565899
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Elevated ... OMIM:616827
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
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
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Carnitine Deficiency, Myopathic
Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy OMIM:212160
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Tall sta... ORPHA:1878
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Abnormal circulating creatine kinase concentration, Intrinsic hand muscle... ORPHA:178400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Proximal muscle weakness, Elevated circulating cr... OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... OMIM:616471
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy, Elevated circulating creatine kinase concentration ORPHA:88635
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Handgrip myotonia, Myofibrillar... ORPHA:97240
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Distal amyotrophy, Proximal muscle weakness, Elevated circulating creatine kinase concentration, ... OMIM:618135
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Mya... ORPHA:370980
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Calf muscle hypertrophy, S... OMIM:606072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... ORPHA:171442
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinas... OMIM:123320
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Impaired vibration sensation in the lower limbs, Abnormal circulating ... ORPHA:399081
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Failure to thrive, Generalized muscle weakness, Proxi... OMIM:255310
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva... OMIM:160565
Paramyotonia Congenita
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia, Skeletal muscle hypertrophy OMIM:168300
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... ORPHA:270
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Exercise intolerance, Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentratio... OMIM:255100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98855
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... ORPHA:171445
Brody Disease
Percussion myotonia, Flexion contracture, Myotonia, Skeletal muscle hypertrophy OMIM:601003
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... ORPHA:63273
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Elevated circulating creatine kinase concentration OMIM:606768
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
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration OMIM:607091
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, External ophthalmoplegia, Skel... OMIM:158900
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Hypertrophic cardiomy... OMIM:612954
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Ragged-red muscle fibers, Myopathy OMIM:545000
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Myotonia, Upper limb muscle weakness, Lower limb muscle weakness, Loss of ambulat... ORPHA:209335
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr... ORPHA:369840
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Failure to thrive, Neck muscle weakness, Increased... OMIM:500009
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, So... OMIM:616924
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H... OMIM:615959
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Myotonia, Increased muscle glycogen content ORPHA:371
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Congenital contracture, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
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
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... ORPHA:98911
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Intrauterine growth retardation, Proxima... OMIM:255200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... OMIM:615350
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... OMIM:602541
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98863
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... OMIM:615980
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 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf musc... OMIM:613155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Gait ataxia, Myopathy, Fatigue, Increased muscle fatiguability, Ataxia OMIM:613077
Central Core Disease
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... ORPHA:597
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Slender build, Progre... ORPHA:399103
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:617069
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Bilateral cryptorchidism, Muscle f... OMIM:619542
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:401768
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Tall stature, Neck muscle weakness, ... OMIM:617258
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy... ORPHA:482601
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:601493
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular ... OMIM:613507
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... OMIM:300580
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Myalgia, Limb muscle weakness, Exercise-induced myalgia ORPHA:45
Myotonia, Potassium-Aggravated
Handgrip myotonia, Skeletal muscle atrophy, Myotonia, Percussion myotonia, Skeletal muscle hypert... OMIM:608390
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatin... OMIM:609452
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Myalgia, Foot d... OMIM:619216
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Intrinsic hand m... ORPHA:399086
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Frog-leg... ORPHA:324581
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Pneumonia, Neonatal hypotonia, Weakness of facial mus... ORPHA:596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase ... OMIM:616052
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... ORPHA:178145
Classic Multiminicore Myopathy
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Intermittent episodes of respiratory... ORPHA:324604
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract, Distal lower limb amyotrophy ORPHA:73245
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
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Peroneal muscle atrophy, Handgrip myotonia, Exercise intolerance, Myotonia, Camptodactyly of fing... ORPHA:324442
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Distal sensory impairment, Spinal muscular atrophy, Trem... OMIM:615048
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Elevated circulating creatine kinase concent... OMIM:615351
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613151
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:601472
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Exercise intolerance, Cardiomyop... ORPHA:171439
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Skeletal muscle atrophy, Myopathy ORPHA:2597
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Paraspinal muscle hypertrophy, Knee flexion contracture, Hip contracture, Scapular winging, Arthr... OMIM:602484
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... OMIM:248800
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... ORPHA:254864
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Cryptorchidism, Myopathy, Ventricular septal defect OMIM:616816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Cryptorchidism, Elevated circulating creatine kinase concentration, Left vent... OMIM:613156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Hypertrophia Musculorum Vera
Calf muscle hypertrophy OMIM:145800
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat... OMIM:613752
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration, Obesity, Di... ORPHA:171706
Myopathy, Distal, Infantile-Onset
Calf muscle hypertrophy, Foot dorsiflexor weakness OMIM:160300
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Infantile axial hypotonia, Developmental cataract, Abnormal muscle fiber protein expression, Hypo... ORPHA:330054
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ... ORPHA:219
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Spasticity, Distal amyotrophy, Optic atrophy, Decreased nerve conduction velocity, Subc... OMIM:612674
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... ORPHA:424107
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Type II diabetes mellitus, Myopathy ORPHA:2579
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Muscular dystrophy, Abnormality of the ovary ORPHA:1875
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia ORPHA:366
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:99845
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Elevated circulating cr... ORPHA:119
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ... ORPHA:272
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Distal lower limb muscle weakness ORPHA:459033
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ... OMIM:604416
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness OMIM:617046
Acetazolamide-Responsive Myotonia
Myotonia, Chest pain, Myalgia, Gait disturbance, Skeletal muscle hypertrophy ORPHA:99736
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Myopathy, Elevated circulating creatine kinase concent... ORPHA:408
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... OMIM:610687
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy ORPHA:238329
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Elev... OMIM:617070
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased muscle fatiguability, Exercise-induc... OMIM:615511
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myalgia, Multiple joint contractures, Myopathy, Limb-girdle muscle weakness, Elevated creatine ki... ORPHA:352470
Spermatogenic Failure 17
Male infertility OMIM:617214
Thomsen And Becker Disease
Myotonia ORPHA:614
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... OMIM:609284
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Spinocerebellar Ataxia 43
Distal amyotrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Myalgia, Elevated ci... OMIM:607155
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Myopathy, Aplasia of the middle phalanx of the hand, Brachy... OMIM:610140
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Congenital Myopathy 10B, Mild Variant
Increased variability in muscle fiber diameter, Neck muscle weakness, Limb muscle weakness, Type ... OMIM:620249
Myofibrillar Myopathy 10
Ankle flexion contracture, Postexertional symptom exacerbation, Elbow flexion contracture, Percus... OMIM:619040
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Generalized ... OMIM:256030
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Myopathy, Generalized amyotrophy OMIM:618323
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Spastic Paraplegia 38, Autosomal Dominant
Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:612335
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... OMIM:619790
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology, Skeletal muscle atrophy, Skeletal... ORPHA:101082
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness,... OMIM:609285
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Hand muscle weakness OMIM:616280
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Exercise intolerance, Shoulder girdle muscle weakness, Myalgia, Myopathy, Patent foramen ovale, E... OMIM:615156
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Autosomal Recessive Progressive External Ophthalmoplegia
Exercise intolerance, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red musc... ORPHA:254886
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Foot dorsiflexor weakness OMIM:618036
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t... ORPHA:75840
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of fac... ORPHA:352447
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... OMIM:603034
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Eleva... OMIM:614399
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... ORPHA:169186
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... ORPHA:98912
Glycogen Storage Disease Iii
Ventricular hypertrophy, Distal amyotrophy, Cardiomyopathy, Hyperlipidemia, Myopathy, Elevated ci... OMIM:232400
Myotonia Permanens
Myotonia, Generalized muscle hypertrophy, Chest pain, Myalgia, Gait disturbance, Skeletal muscle ... ORPHA:99735
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Firm muscles, Myotonia, Skeletal muscle hypertrophy OMIM:255710
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... ORPHA:97244
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Nemaline Myopathy 8
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy OMIM:615348
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Exercise intolerance, Weakness of orbic... ORPHA:2596
Glycogen Storage Disease X
Exercise intolerance, Rhabdomyolysis, Myopathy, Elevated circulating creatine kinase concentratio... OMIM:261670
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:559
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2926
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Myalgia, Facial diplegia,... ORPHA:329478
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Reduced muscle fiber alpha dystroglycan, Multiple joint contrac... ORPHA:370968
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Cryptorchidism, Elevated circulat... OMIM:301830
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Myalgia, Ragged-red muscle fibers, Elevated circulating creatine kinase con... OMIM:619024
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Exercise intolerance, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Chest pain, Lower limb... ORPHA:1349
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures OMIM:611369
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Myopathy OMIM:170400
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue, Difficulty walking, Chorea, Myal... ORPHA:369847
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Inguinal hernia, Dysmetria, Distal lower limb... OMIM:619903
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the... ORPHA:206546
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
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
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness OMIM:182960
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Decreased thalamic volume, Cardiomyopathy, Reduced muscle fiber alpha dystrog... ORPHA:370959
Myotonia Fluctuans
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... ORPHA:99734
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy OMIM:605809
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Fatigue, Myopathy ORPHA:154
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat... ORPHA:397744
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myalgia, Myopathy, Hypothyroidism, Macroglossia, Skeletal muscle hypertrophy ORPHA:2349
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy OMIM:616625
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Proximal spinal muscular atrophy, Abnormal muscle fiber ... ORPHA:1320
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Falls, Decreased muscle mass, Asymmetric limb muscle stiffness, Inability to w... ORPHA:3101
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration ORPHA:300179
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Increased serum pyruvate, Fatigue, Ragged-red muscle fibers OMIM:616794
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Elevated circulating creatine... OMIM:615368
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl... OMIM:617336
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Hamstring contractures, Knee flexion ... OMIM:310200
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Eosinophilic Fasciitis
Fasciitis, Myositis, Muscular edema, Weight loss, Arthritis ORPHA:3165
Papa Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Pustule, Arthritis, Acne ORPHA:69126
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Diabetes mellitus, Ragged-red muscle fibers, Myopathy OMIM:540000