Gene Summary

Name:
dystrophin, muscular dystrophy
Synonyms:
Dp71,  Dp427,  X-linked muscular dystrophy,  pke,  Duchenne muscular dystrophy,  mdx,  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 total protein level Dmdem1(IMPC)Hmgu HOM   Early adult 2.00×10-05
increased circulating alkaline phosphatase level Dmdem1(IMPC)Hmgu HOM   Early adult 5.85×10-06
increased lean body mass Dmdem1(IMPC)Hmgu HOM   Early adult 1.33×10-14
increased lean body mass Dmdem1(IMPC)Hmgu HEM   Early adult 1.55×10-06
increased circulating aspartate transaminase level Dmdem1(IMPC)Hmgu HEM   Early adult 0.00
increased circulating aspartate transaminase level Dmdem1(IMPC)Hmgu HOM   Early adult 0.00
increased circulating alanine transaminase level Dmdem1(IMPC)Hmgu HEM   Early adult 1.37×10-06
increased circulating alanine transaminase level Dmdem1(IMPC)Hmgu HOM   Early adult 2.27×10-10
decreased bone mineral content Dmdem1(IMPC)Hmgu HOM   Early adult 1.60×10-11
decreased mean corpuscular hemoglobin Dmdem1(IMPC)Hmgu HOM   Early adult 9.79×10-05
thrombocytosis Dmdem1(IMPC)Hmgu HOM   Early adult 7.68×10-10
increased red blood cell distribution width Dmdem1(IMPC)Hmgu HOM   Early adult 3.16×10-08
decreased circulating amylase level Dmdem1(IMPC)Hmgu HOM   Early adult 3.49×10-05
decreased mean corpuscular volume Dmdem1(IMPC)Hmgu HEM   Early adult 1.82×10-12
decreased mean corpuscular volume Dmdem1(IMPC)Hmgu HOM   Early adult 3.24×10-07
abnormal bone structure Dmdem1(IMPC)Hmgu HOM   Early adult 0.00
abnormal bone structure Dmdem1(IMPC)Hmgu HEM   Early adult 3.97×10-05
decreased grip strength Dmdem1(IMPC)Hmgu HOM   Early adult 9.29×10-05

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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 associated to Dmd by orthology or direct annotation.

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
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Elevated circulating creatine k... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Shoulder girdle mus... OMIM:613530
Vacuolar Neuromyopathy
Neck flexor weakness, Elevated circulating creatine kinase concentration, Shoulder girdle muscle ... OMIM:601846
Muscular dystrophy, limb-girdle, type 2R
Scapular winging, Muscular dystrophy, Facial palsy, Elbow flexion contracture OMIM:615325
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy... OMIM:617072
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration, Muscular dystrophy, Scapular winging, Shoulde... OMIM:310095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Elevated circulating cre... OMIM:601954
Miyoshi Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Muscular dystrophy, Deposits immunoreactive t... OMIM:254130
Myopathy, Myofibrillar, 2
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Respiratory insufficienc... OMIM:608810
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Elevated circulating creatine kinase concentration, Muscular dystrophy, Congenital muscular dystr... OMIM:613152
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy OMIM:253900
Miyoshi Muscular Dystrophy 3
Elevated circulating creatine kinase concentration, Muscular dystrophy, Quadriceps muscle atrophy... OMIM:613319
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Elevated circulating creatine kinase concentration, Shoulder girdle muscle a... OMIM:604286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Gowers sign, Elevated circulating creatine kinase concentration, Hypog... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Proximal muscle weakness, Skeletal muscle atrophy, Elevated circulating creatine kinase concentra... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Proximal muscle weakness, Elevated circulating creatine kinase concentration, EMG: myopathic abno... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, F... OMIM:603511
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, Elevated circulating creatine kinase... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Proximal muscle weakness, Pelvic girdle muscle weakness, Elevated circulating creatine kinase con... OMIM:611307
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... OMIM:608423
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Proximal muscle weakness, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal mu... OMIM:618655
Muscular Dystrophy, Congenital, Merosin-Positive
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... OMIM:609456
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Proximal amyotrophy, Proximal muscle weakness, Elevated circulating creatine kinase concentration... OMIM:612998
Myotonia Congenita, Autosomal Dominant
Myotonia, Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia, EMG: myotonic runs... OMIM:160800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Gowers sign, Proximal muscle weakness, Skeletal muscle atrophy, Elevated circulating creatine kin... OMIM:613723
Muscular Dystrophy, Congenital, Lmna-Related
Elevated circulating creatine kinase concentration, Failure to thrive, Respiratory insufficiency ... OMIM:613205
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, ... OMIM:615422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, Proximal muscle weaknes... OMIM:618848
Myopathy, Distal, 5
Myopathy, Facial palsy, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy, Musc... OMIM:617030
Nonaka Myopathy
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Rimmed vacuoles... OMIM:605820
Myopathy, Distal, 3
Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal amyotrophy, Gowers sign, Proximal muscle weakness, Elevated circulating creatine kinase ... OMIM:601287
Rippling Muscle Disease 1
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Elevated ... OMIM:617158
Welander Distal Myopathy
Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Percussion myotonia, Skeletal muscle fibrosis, Rimmed vacuoles,... ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Elevated circulating cre... OMIM:609115
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy, Scapulohumeral
Scapulohumeral muscular dystrophy OMIM:600416
Inclusion Body Myositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... ORPHA:611
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Elevated circulating creatine kinase concentration, Muscular dystrophy, Gowers sign, Muscle weakness OMIM:616094
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Beevor's sign, Facial palsy, Sc... OMIM:158901
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Myofibrillar Myopathy 11
Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... OMIM:619178
Muscular Dystrophy, Hemizygous Lethal Type
Limb-girdle muscular dystrophy OMIM:309950
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Congenital... OMIM:613204
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly ele... ORPHA:603
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated creatine kinase ... ORPHA:263494
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Proximal muscle weakness, Pelvic girdle muscle weakness, Elevated circulating creatine kinase con... ORPHA:34515
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Proximal amyotrophy, Myositis, Elevated circulating creatine kinase concentration, Facial palsy, ... OMIM:253600
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, External ophthalmoplegia, Elevated circulating creatine kinase co... OMIM:618940
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffi... OMIM:300717
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase ... OMIM:609500
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology, Percussion-induced rapid rollin... OMIM:606072
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Muscular Dystrophy, Congenital, 1B
Gowers sign, Elevated circulating creatine kinase concentration, Generalized muscle hypertrophy, ... OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... OMIM:611705
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Elevated circulating creatine kinase concentration, Generalized amyot... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... OMIM:616852
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... OMIM:619477
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Proximal muscle weakness, Scapular muscle atrophy, Congenital finger f... ORPHA:267
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
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Muscular dystrophy, Skeletal muscle hypertrop... OMIM:613158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Scap... OMIM:617232
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... ORPHA:457050
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Mildly elevated ... OMIM:614065
Paramyotonia Congenita Of Von Eulenburg
Myotonia, Myotonia of the upper limb, Handgrip myotonia, Percussion myotonia, Cold-sensitive myot... ORPHA:684
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Type II diabetes mellitus, Elevated circulating cr... OMIM:500002
Myopathy, Myofibrillar, 5
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Muscle fiber cytopl... OMIM:609524
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness, Myopathy, Mildly elevated creatine kinase, Rimmed vacuoles, Limb-girdle... OMIM:615424
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Proximal muscle weakness, Muscle fiber hypertrophy, Skeletal muscle atrophy... ORPHA:178464
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Progressive distal muscle weakness, Autophagi... ORPHA:399058
Myopathy, Centronuclear, 1
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Cardiomyopathy,... OMIM:608099
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Myotonia Congenita, Autosomal Recessive
Myotonia, Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy, Percussion my... OMIM:255700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Elevated circulating creatine kinase concentration, Back pain, Mya... OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Flexion c... OMIM:609308
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Proximal muscle weakness, Elevated circulating creatine ... OMIM:612999
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Elevated circula... OMIM:255160
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Cardiomyopathy, Hypoglycosylation of alpha-dy... OMIM:615352
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Calf muscle pseudohypertr... OMIM:300376
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:607855
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myotonia, Myopathy OMIM:158800
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Elevated circulatin... ORPHA:266
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Gowers sign, Proximal muscle weakness, Elevated circulating creatine kinase concentration, Achill... ORPHA:62
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Tall stature, Elevated circulating creatine ki... ORPHA:1878
Myositis
Proximal muscle weakness, Myositis OMIM:160750
Focal Myositis
Elevated circulating creatine kinase concentration, Muscle weakness, Myositis ORPHA:48918
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Proximal muscle weakness, Skeletal muscle hypertrophy, Elevated circulating creatine... OMIM:613157
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myositis, Elevated circulating ... ORPHA:565899
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Myopathy, Elevated circulating creatine kinase concentration, Facial palsy, Congenit... OMIM:602541
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Facial palsy, Ge... OMIM:612954
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212160
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Musc... OMIM:616516
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion co... OMIM:300695
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... ORPHA:370980
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Tibia... ORPHA:178400
Inclusion Body Myositis
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature OMIM:181430
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Elevated circulating creatine kinase concentration, Gowers sign, Calf muscle hypertrophy, Proxima... OMIM:618135
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Elevated circulating c... OMIM:158810
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Muscle weakness, Increased variability in muscle fiber diameter, ... OMIM:619042
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... ORPHA:206569
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Dilated cardiomyopathy, Skeletal muscle atrophy, Macroglossia, Elevated circul... OMIM:616827
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Rimmed vacuoles,... OMIM:300696
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:309930
Myopathy, Congenital Proximal, With Minicore Lesions
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... OMIM:618823
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... ORPHA:486815
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Elevated circulating creatine kinase concentration, Facial palsy, Cardiomyopathy, C... OMIM:613155
Zebra Body Myopathy
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, ... ORPHA:97240
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Neck muscle weakness, Calf muscle hypertrophy OMIM:614321
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Myopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentrati... OMIM:612937
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Skeletal muscle hypertrophy, Macroglossia, Elevated circulating creatine kinase concentration, Ac... OMIM:608840
Lipodystrophy, Familial Partial, Type 6
Proximal muscle weakness, Abnormal circulating lipid concentration, Elevated circulating creatine... OMIM:615980
Miyoshi Myopathy
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... ORPHA:45448
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy OMIM:606768
Myopathy, Distal, 1
Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Elevated circulating... OMIM:160500
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Progr... ORPHA:488650
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Skeletal muscle atrophy, Mildly elevated creatine kinase, Muscle weakness, Distal amyotrophy, Dis... OMIM:614369
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Respiratory insufficiency due to ... OMIM:617066
Myopathy, Distal, Infantile-Onset
Elevated circulating creatine kinase concentration, Foot dorsiflexor weakness, Distal muscle weak... OMIM:160300
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Abnormal circulating creatine kinase concentration, Cerebral white matter atrophy, Musc... ORPHA:369840
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Weakness of the in... ORPHA:399081
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613869
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Weakness of facial musculature, Small for gestational age, Arthrogryposis multiplex ... OMIM:618484
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... OMIM:618963
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating creatine kinase concentration, Myopathy OMIM:607091
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... ORPHA:63273
Bethlem Myopathy 2
Myopathy, Elevated circulating creatine kinase concentration, Increased variability in muscle fib... OMIM:616471
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98855
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Paradoxical myotonia, Skeletal muscle hypertrophy, Percussion myotonia OMIM:168300
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, M... ORPHA:171442
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Elevated circulating creatine kinase concentration, E... OMIM:123320
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase concentration, Car... OMIM:610717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Microcephaly, Elevated circulating c... OMIM:615350
Myopathy, Congenital, With Fiber-Type Disproportion
Proximal muscle weakness, Limb joint contracture, Failure to thrive, Respiratory insufficiency du... OMIM:255310
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Elevated circulating creati... ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Gowers sign, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, Elevated circulat... OMIM:253700
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of facial musculatu... OMIM:619062
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Short stat... OMIM:602771
Myopathy, Centronuclear, 2
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... OMIM:255200
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Elevated circulating creatine kinase concentration, Progressive muscle weakness, F... OMIM:619518
Striatonigral Degeneration, Infantile, Mitochondrial
Hypotonia, Ragged-red muscle fibers, Generalized hypotonia OMIM:500003
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... OMIM:616812
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Gowers sign, Elevated circulating creatine kinase concentration, Reduc... ORPHA:280333
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Cardiomyopathy, Myopathy, Fatty replacement o... OMIM:255100
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... OMIM:255320
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, EMG: myotonic runs, Sca... ORPHA:353
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle weakness OMIM:614881
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Elevated circulati... OMIM:603689
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... ORPHA:276435
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers OMIM:545000
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Mildly elevated creatine kinase, Increased variability in ... ORPHA:401768
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Gowers sign, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Mus... OMIM:611588
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, External ophthalmoplegia, Elevated ci... OMIM:158900
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy OMIM:615041
Bethlem Myopathy
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... ORPHA:610
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... OMIM:182920
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Limb muscle weakness, Elevate... OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequent falls, Elevate... OMIM:616924
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... OMIM:618654
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Muscular dystrophy, Microcephaly, Congenital ... OMIM:613151
Distal Myotilinopathy
Abnormal muscle fiber myotilin, Elevated circulating creatine kinase concentration, Cardiomyopath... ORPHA:98911
Nemaline Myopathy 7
Nemaline bodies, Minicore myopathy, Myofibrillar myopathy OMIM:610687
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture, Elev... OMIM:300718
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Proximal muscle weakness, Fatigable weakness OMIM:614750
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Elevated circulating creatine kinase concentration, Secondary microcephaly, Rhabdomyolysis, Cereb... OMIM:618331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Elevated circulating creatine kinase concentration, Fa... OMIM:613156
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Corpus callosum atrophy, Cardiomyopathy OMIM:225740
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced myalgia, Myalgia, Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... ORPHA:399086
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... ORPHA:482601
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Type II lissencephaly, Fl... OMIM:613154
King-Denborough Syndrome
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Elevated circulatin... OMIM:619542
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:600794
Polyglucosan Body Myopathy 2
Distal muscle weakness, Skeletal muscle atrophy, Limb-girdle muscle weakness OMIM:616199
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Elevated circulating creatine kinase concentration, Hypoglycosylation of alpha-dyst... OMIM:616052
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Poor head control, Generalized limb muscle atrophy, Elevated circulating creatine kinase concentr... OMIM:615351
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase con... OMIM:609452
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy OMIM:271220
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Limb muscle weaknes... OMIM:617258
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy, Hyperalaninemia ORPHA:2597
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Pneumonia, Neonatal hypotonia, Type 1 fibers relatively smaller t... ORPHA:596
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... ORPHA:597
Nemaline Myopathy 2
Slender build, Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudo... OMIM:256030
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Myopathy, Facial palsy OMIM:253320
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Exercise-induced myalgia, Abnormality of the foot muscul... ORPHA:169189
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Glycogen Storage Disease Ixb
Muscle weakness, Short stature, Increased muscle glycogen content OMIM:261750
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... OMIM:609283
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Distal lower limb amyotrophy, Cataract ORPHA:73245
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Peroneal muscle atrophy, Gait disturbance, Myotonia, Weakness of the intrinsic hand muscles, Hand... ORPHA:324442
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rimmed vac... OMIM:248800
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Abnormal corpus striatum morphology, Skeletal muscle atrophy, Increased... ORPHA:238329
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Gowers sign, Growth delay, Short stature, Obesity, Abnor... ORPHA:171706
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Neck muscle weakness, Proximal muscle weakness OMIM:614302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Macroglossia, Elevated circulating creatine kinase concentration, Achilles t... OMIM:606612
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:601472
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Frog-leg posture, Centrally nucleated skeletal muscl... ORPHA:324581
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture, Paraspinal muscle ... OMIM:602484
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter, Dilation of ... OMIM:616816
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myalgia, Proximal muscle w... OMIM:619216
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fasciculations, Dist... OMIM:615048
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... OMIM:618138
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Calf muscle hypertrophy, Incr... OMIM:617760
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Decrea... OMIM:310300
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... ORPHA:219
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myotonia, Myopathy, Skeletal muscle atrophy, Flexion con... OMIM:310440
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Infantile axial hypotonia, Hypotonia, Abnormal muscle fiber protein expression, Developmental cat... ORPHA:330054
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Hypertrophia Musculorum Vera
Calf muscle hypertrophy OMIM:145800
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Ap... ORPHA:272
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy, Microcephaly ORPHA:50817
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Foot dorsiflexor weakness, Myotonia, Skeletal muscle atrophy OMIM:137200
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Ragged-red muscle fibers, Skeletal muscle atrophy, Abnormality of the b... OMIM:300816
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Flexion contracture OMIM:618323
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Mildly elevated... ORPHA:254864
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Viral infection-induced rhabdom... ORPHA:99845
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Skeletal muscle atrophy, Exercise-induced myalgia, Rhabdomyolysis, Increased muscle fat... OMIM:615511
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Myopathy, Proximal, With Ophthalmoplegia
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... OMIM:605637
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Achilles tendon contracture, Decreased nerve conduction velocity, Subcapsular cata... OMIM:612674
Myasthenic Syndrome, Congenital, 14
Gowers sign, Ragged-red muscle fibers, Mildly elevated creatine kinase, Fatigable weakness, Flexi... OMIM:616228
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Obesity ORPHA:459033
Neuronopathy, Distal Hereditary Motor, Type Iic
Distal lower limb muscle weakness, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:613376
Acetazolamide-Responsive Myotonia
Gait disturbance, Myotonia, Skeletal muscle hypertrophy, Myalgia, Chest pain ORPHA:99736
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... ORPHA:663
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration ORPHA:154
Congenital Myopathy With Myasthenic-Like Onset
Myopathy, Minicore myopathy, Scapular winging, EMG: myopathic abnormalities, Multiple joint contr... ORPHA:424107
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Card... ORPHA:119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Type II lissencephaly OMIM:614830
Myofibrillar Myopathy 10
Ankle flexion contracture, Percussion myotonia, EMG: myopathic abnormalities, Knee flexion contra... OMIM:619040
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy OMIM:617336
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia ORPHA:366
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Congenital muscular dystrophy ORPHA:1875
Thomsen And Becker Disease
Myotonia ORPHA:614
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Myopathy, Adrenocortical hypoplasia, Cryptorc... ORPHA:408
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy OMIM:615025
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Distal arthrogryposis, Skeletal muscle atrophy, Flexion contracture OMIM:614915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Skeletal muscle atr... OMIM:617070
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Pleoconial Myopathy With Salt Craving
Proximal amyotrophy, Myopathy OMIM:262900
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Elevated circulating creatine kinase co... ORPHA:254886
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy OMIM:608323
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Type II diabetes mellitus ORPHA:2579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Lissencephaly, Left ventricular hypertrophy, ... OMIM:613153
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Elevated circulating creatine ki... OMIM:609560
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal skeletal muscle morphology, Internally nucleated skeletal muscle fibers, Axial muscle we... ORPHA:98905
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Spastic Paraplegia 17, Autosomal Dominant
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... OMIM:270685
Spastic Paraplegia 38, Autosomal Dominant
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... OMIM:612335
Nemaline Myopathy 1
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... OMIM:609284
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Ataxia, Tremor, Distal amyotrophy, Limb ataxia, Gait ataxia OMIM:617018
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Elevated creatine kinase after exercise, Myalgia, Multiple joint contractures, Limb-gir... ORPHA:352470
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Classic Multiminicore Myopathy
Poor head control, Increased muscle lipid content, Weakness of facial musculature, Short stature,... ORPHA:324604
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur... OMIM:615368
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Nemaline Myopathy 4
Hypotonia, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, G... OMIM:609285
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology, Skeletal muscle atrophy, Skeletal... ORPHA:101082
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Skeletal muscle atrophy, Tremor, Ataxia, Flexion contracture, Spasticity OMIM:611105
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture, Abnormal cerebral white matter morph... OMIM:201470
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Myotonia, Skeletal muscle hypertrophy OMIM:255710
Ullrich Congenital Muscular Dystrophy 1
Proximal muscle weakness, Reduced muscle collagen VI, Torticollis, Failure to thrive, Respiratory... OMIM:254090
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement, Decreased muscle glycogen ... OMIM:611556
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy OMIM:616321
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Elevated circulating creatin... ORPHA:353327
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:603034
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated circulating C-react... OMIM:604416
Myotonia Permanens
Gait disturbance, Myotonia, Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Myalgia,... ORPHA:99735
Myotonia, Potassium-Aggravated
Myotonia, Skeletal muscle hypertrophy OMIM:608390
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Gait disturbance, Fatigue, Lethargy ORPHA:79283
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... ORPHA:972
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... ORPHA:98912
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Elevated circulating creatine kinase concentration... ORPHA:75840
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Eleva... ORPHA:352447
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dystroglycan, Hypoglycosyla... ORPHA:370968
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Nemaline Myopathy 8
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture OMIM:615348
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... ORPHA:206546
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:2926
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Elbow flexion contrac... ORPHA:97244
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Babinski sign, Skeletal muscle atrophy, Limb muscle weak... OMIM:613954
Myotonia Fluctuans
Gait disturbance, Myotonia of the upper limb, Handgrip myotonia, Myotonia of the lower limb, Spas... ORPHA:99734
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Fatigue, Ragged-red muscle fibers, Abdominal pain OMIM:616794
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Exercise-induced muscle fatigue, Chorea, Myalgia, Limb-girdle muscular dystrophy, Trunc... ORPHA:369847
Glycogen Storage Disease Iii
Myopathy, Hyperlipidemia, Elevated circulating creatine kinase concentration, Ventricular hypertr... OMIM:232400
Neuronopathy, Distal Hereditary Motor, Type I
Upper limb muscle weakness, Distal amyotrophy OMIM:182960
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kin... ORPHA:262
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Myotonia of the upper limb, Skeletal muscle hypertrophy, Handgrip myotonia... ORPHA:3101
Myasthenic Syndrome, Congenital, 23, Presynaptic
Calf muscle hypertrophy OMIM:618197
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Glycerol Kinase Deficiency
Myopathy, Adrenal insufficiency, Muscular dystrophy, Hypertriglyceridemia, Cryptorchidism, Adreno... OMIM:307030
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, Left ... OMIM:617713
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbumine... OMIM:209950
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy OMIM:616625
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Myopathy Due To Malate-Aspartate Shuttle Defect
Elevated circulating creatine kinase concentration, Myopathy, Exercise-induced myalgia OMIM:254960
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy OMIM:615043
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Idiopathic Camptocormia
Abnormal inflammatory response, Dystonia, Myositis, Amyotrophic lateral sclerosis, EMG: myopathic... ORPHA:1320
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:605809
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Gait ataxia, Increased muscle fatiguability OMIM:613077
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Limb muscle weakness, Facial palsy, EMG: myopathic abnormalities, Generalized muscle weakness, Co... OMIM:601170
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy, Microcephaly, Elevated circulating acylcarnitine concentration ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy OMIM:618234
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular tachycardia, Cardiomyopathy, Shoulder girdle mus... ORPHA:263297
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Eosinophilic Fasciitis
Myositis, Weight loss, Fasciitis, Arthritis, Muscular edema ORPHA:3165
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy, Fatigue OMIM:212350
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Myopathy, Skeletal muscle atrophy ORPHA:300179
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia, Myalgia, Hypothyroidism ORPHA:2349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Mitral valve prolapse, Impaired distal proprioception, M... OMIM:258450
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... ORPHA:29073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Leukoencephalopathy, Muscular dystrophy, Poly... OMIM:615181
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability in... ORPHA:397744
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease ORPHA:69126
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Myopathy, Tubular Aggregate, 2
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Generalized muscle ... OMIM:615883
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy, Secondary microcephaly OMIM:618236
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Ragged-red muscle fibers, ... ORPHA:1349
Combined Oxidative Phosphorylation Deficiency 49
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Myalgia OMIM:619024
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Night sweats, Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscl... OMIM:619574
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscu... OMIM:310200
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic hypokalemia, Late-onset proximal muscle weakness, Incr... ORPHA:681
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Nemaline Myopathy 3
Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Respiratory insufficiency d... OMIM:161800
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Maternal diabet... ORPHA:79083
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle atrophy, Abnorma... ORPHA:559
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Multiple joint c... OMIM:301830
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myopathy, Rhabdomyolysis, Exercise-induced my... OMIM:261670
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... OMIM:615418
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, E... ORPHA:57
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Cysticercosis
Infectious encephalitis, Abnormal skeletal muscle morphology, Ataxia, Increased circulating antib... ORPHA:1560
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy ORPHA:401805
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Pure Mitochondrial Myopathy
Proximal amyotrophy, Pelvic girdle muscle weakness, Exercise-induced muscle fatigue, Quadriceps m... ORPHA:254854
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Short stature, Increased... OMIM:619065
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility