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Gene: Dmd MGI:94909

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone structure Dmdem1(IMPC)Hmgu HEM   Early adult 3.97×10-05
increased circulating total protein level Dmdem1(IMPC)Hmgu HOM   Early adult 7.11×10-07
increased red blood cell distribution width Dmdem1(IMPC)Hmgu HOM   Early adult 3.16×10-08
increased circulating aspartate transaminase level Dmdem1(IMPC)Hmgu HEM   Early adult 0.00
thrombocytosis Dmdem1(IMPC)Hmgu HOM   Early adult 7.68×10-10
increased circulating alkaline phosphatase level Dmdem1(IMPC)Hmgu HOM   Early adult 1.99×10-05
abnormal bone structure Dmdem1(IMPC)Hmgu HOM   Early adult 0.00
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
increased circulating alanine transaminase level Dmdem1(IMPC)Hmgu HOM   Early adult 8.33×10-14
increased circulating aspartate transaminase level Dmdem1(IMPC)Hmgu HOM   Early adult 0.00
increased lean body mass Dmdem1(IMPC)Hmgu HOM   Early adult 1.31×10-14
increased lean body mass Dmdem1(IMPC)Hmgu HEM   Early adult 1.52×10-06
decreased total body fat amount Dmdem1(IMPC)Hmgu HEM   Early adult 2.96×10-05
decreased total body fat amount Dmdem1(IMPC)Hmgu HOM   Early adult 2.87×10-12
decreased grip strength Dmdem1(IMPC)Hmgu HOM   Early adult 9.29×10-05
decreased mean corpuscular hemoglobin Dmdem1(IMPC)Hmgu HOM   Early adult 9.61×10-05
decreased bone mineral content Dmdem1(IMPC)Hmgu HOM   Early adult 1.60×10-11
increased circulating alanine transaminase level Dmdem1(IMPC)Hmgu HEM   Early adult 4.75×10-07
increased circulating serum albumin level Dmdem1(IMPC)Hmgu HOM   Early adult 2.35×10-06

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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

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X-ray

XRay Images Whole Body Dorso Ventral

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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
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Vacuolar Neuromyopathy
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase... OMIM:601846
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... OMIM:617072
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concent... OMIM:310095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration, L... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... OMIM:254110
Myopathy, Myofibrillar, 2
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... OMIM:608810
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... OMIM:616199
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Miyoshi Muscular Dystrophy 3
Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy, Elevated circulating crea... OMIM:613319
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... ORPHA:609
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulati... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Distal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating cr... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Myopathy, Myofibrillar, 3
Myalgia, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Distal amyotr... OMIM:609200
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Mildly elevated creatine k... OMIM:609456
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... OMIM:612998
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Gowers sign, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concen... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase c... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Respiratory insufficiency due to muscle weakness, Flexion contracture, Elevate... OMIM:613205
Glycogen Storage Disease Xiii
Increased muscle glycogen content, Elevated circulating creatine kinase concentration OMIM:612932
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Mildly elevated creatine kinase, Faci... OMIM:617030
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal muscle weakness, Elevated circulating creat... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Gowers sign, Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase co... OMIM:601287
Myopathy, Distal, 3
Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... OMIM:610099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weak... OMIM:613818
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Skeletal muscle hypertrophy OMIM:600332
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Welander Distal Myopathy
Distal muscle weakness, Rimmed vacuoles, Mildly elevated creatine kinase, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:609115
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Mildly elevated cr... OMIM:608358
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Myosit... OMIM:615422
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Proximal mus... OMIM:301075
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Elevated circulati... ORPHA:611
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy, Scapulohumeral
Scapulohumeral muscular dystrophy OMIM:600416
Gne Myopathy
Mildly elevated creatine kinase, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabi... ORPHA:602
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Elevated circulating creatine kinase concentration, Muscle weakness, Gowers sign OMIM:616094
Myotonia Congenita, Autosomal Dominant
Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myot... OMIM:160800
Muscular Dystrophy, Hemizygous Lethal Type
Limb-girdle muscular dystrophy OMIM:309950
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Beevor's sign, Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness... OMIM:158901
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy, Elevated circulating creatine kinase concentration, Generalized muscle weakness OMIM:613152
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:613204
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:603511
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly elevated cre... ORPHA:603
Dpm3-Cdg
Elevated creatine kinase after exercise, Calf muscle hypertrophy, Muscular dystrophy, Pelvic gird... ORPHA:263494
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... OMIM:300717
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:609500
Rippling Muscle Disease 2
Abnormal skeletal muscle morphology, Percussion-induced rapid rolling muscle contractions, Muscle... OMIM:606072
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Muscular Dystrophy, Congenital, 1B
Gowers sign, Generalized muscle hypertrophy, Pectoralis amyotrophy, Diaphragmatic weakness, Eleva... OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... OMIM:611705
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
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... OMIM:613158
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Fatigue, Proximal muscle weakness, Shoul... OMIM:619477
Myopathy, Distal, 4
Abnormality of the calf musculature, Mildly elevated creatine kinase, Distal upper limb amyotroph... OMIM:614065
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Short stature, Proximal muscle weakness in lower limbs, Elevated circulating creatine kinase conc... OMIM:616209
Mitochondrial Myopathy With Diabetes
Type II diabetes mellitus, Exercise intolerance, EMG: myopathic abnormalities, Elevated circulati... 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
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... ORPHA:267
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Short stature, Proximal muscle weakness in lower limbs, Weakness of facial musculature, Neck flex... ORPHA:457050
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Abdominal pain, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increas... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Scapular winging, Elevated circulating creatine kinase c... OMIM:617232
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Facial muscle hypertrophy, Paradoxical myotonia, Cold-sensitive myotonia, E... ORPHA:684
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber splitting... OMIM:609524
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy, Exercise intolerance OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myalgia, Back pain, Elevated circulating creatine kinase concentration, Muscle fiber splitting, S... OMIM:618129
Multiminicore Myopathy
Failure to thrive, Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morpho... ORPHA:598
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Myotonia Congenita, Autosomal Recessive
Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Myotonia, Muscle hypertrophy of th... OMIM:255700
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Cardiomyopathy, Dilated, 1X
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated ci... OMIM:611615
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase... OMIM:607855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Exercise intolerance, Muscular dystrophy, Elevated circu... OMIM:615352
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... OMIM:612999
Muscular Dystrophy, Becker Type
Muscular dystrophy, Elevated circulating creatine kinase concentration, Muscle weakness, Calf mus... OMIM:300376
Danon Disease
Myocardial fibrosis, Exercise intolerance, Myocardial necrosis, EMG: myopathic abnormalities, Ele... OMIM:300257
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Gowers sign, Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle ... ORPHA:62
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... ORPHA:266
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Poor head contr... OMIM:602771
Muscular Dystrophy, Barnes Type
Myotonia, Myopathy, Muscular dystrophy OMIM:158800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... OMIM:613157
Myositis
Myositis, Proximal muscle weakness OMIM:160750
Focal Myositis
Elevated circulating creatine kinase concentration, Muscle weakness, Myositis ORPHA:48918
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Tall stature, Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diam... ORPHA:1878
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Elevated circulating creatine k... ORPHA:565899
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Muscular dystrophy, Elevated circulating creatine kinase concentration, Congenital m... OMIM:602541
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... OMIM:612954
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:616516
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Elevated circulating creatine kinase concentration, Scapuloperoneal myopathy... OMIM:300695
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration, Limb... OMIM:609308
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Back pain, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rim... OMIM:300696
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elevated circulating creatine ... OMIM:158810
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Elevated circulatin... OMIM:616827
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Distal muscle weakness, Increased variability in muscle fiber dia... OMIM:619042
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Skin rash, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EM... ORPHA:206569
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Calf muscle hypertrophy, Gowers sign, Elevated circulating creatine kinase concentration, Proxima... OMIM:618135
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:486815
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Reduced muscle carnitine level, Myopathy OMIM:212160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Flexion contracture, ... OMIM:253700
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Flexion contracture of finger, Increased endomysial connective tissue, Flexion contr... OMIM:618484
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Neck muscle weakness, Elevated circulating creatine kinase concentration OMIM:614321
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... OMIM:612937
Myopathy, Myosin Storage, Autosomal Recessive
Fourth heart sound, Congestive heart failure, Right axis deviation, Sinus tachycardia, EMG: myopa... OMIM:255160
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Miyoshi Myopathy
Triceps weakness, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Quadriceps mu... ORPHA:45448
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy OMIM:606768
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Myalgia, EMG: myopathic abnormalities, ... ORPHA:370980
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Distal amyotrophy, Muscle weakness, Mildly elevated creatine kinase, Skel... OMIM:614369
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... OMIM:617066
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... OMIM:616471
Myopathy, Distal, Infantile-Onset
Distal muscle weakness, Calf muscle hypertrophy, Elevated circulating creatine kinase concentrati... OMIM:160300
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Exercise intolerance, Elevated circulating creatine kinase concentration, Fatty replacement of sk... OMIM:255100
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... ORPHA:399081
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... OMIM:615350
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:613869
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Paramyotonia Congenita Of Von Eulenburg
Percussion myotonia, Paradoxical myotonia, Handgrip myotonia, Skeletal muscle hypertrophy OMIM:168300
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating creatine kinase concentration, Myopathy OMIM:607091
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Creatine Phosphokinase, Elevated Serum
Myalgia, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Elev... OMIM:123320
Adult-Onset Nemaline Myopathy
Nemaline bodies, Myalgia, Flexion contracture, EMG: myopathic abnormalities, Increased variabilit... ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase conce... OMIM:613155
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Proximal mu... OMIM:255310
Brody Disease
Myotonia, Percussion myotonia, Flexion contracture, Skeletal muscle hypertrophy OMIM:601003
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Elevated circulating creatine kinase concentra... ORPHA:270
Myopathy, Distal, 1
Myalgia, Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Elevated circ... OMIM:160500
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Gowers sign, Calf muscle hypertrophy, Elevated circulati... ORPHA:280333
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Macroglossia, Increased serum pyruvate, Ele... OMIM:500009
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... OMIM:618963
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, EMG: myopathic abnormal... OMIM:608840
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Increased serum pyruvate, Myopathy OMIM:545000
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Exercise-induced myalgia, Increased variability... OMIM:160565
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertr... ORPHA:353
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Skeletal muscle atrophy, Muscle weakness, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myalgia, Muscle fiber atrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentra... ORPHA:369840
Facioscapulohumeral Muscular Dystrophy 1
Beevor's sign, Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Elev... OMIM:158900
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Gowers sign, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Elevated circu... OMIM:611588
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ba... OMIM:616924
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy OMIM:615041
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG: myopathi... OMIM:255200
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... ORPHA:610
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Myopathy, Proximal a... OMIM:182920
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Short stature, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, El... OMIM:619518
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Distal Nebulin Myopathy
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... ORPHA:399103
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, ... OMIM:615980
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Hip pain, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pel... OMIM:167320
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... ORPHA:98911
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Proximal Myopathy With Extrapyramidal Signs
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Proximal muscle ... ORPHA:401768
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Poor head control, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrop... OMIM:615351
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Quadriceps muscle atrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculatur... ORPHA:482601
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... ORPHA:399086
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Adenosine Monophosphate Deaminase Deficiency
Myalgia, Exercise-induced myalgia, Limb muscle weakness, Exercise-induced muscle fatigue ORPHA:45
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Elevated circulat... OMIM:616052
King-Denborough Syndrome
Muscle fiber atrophy, Cryptorchidism, Weakness of facial musculature, Minicore myopathy, Exercise... OMIM:619542
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... OMIM:600794
Neutral Lipid Storage Disease With Myopathy
Myalgia, Exercise intolerance, Elevated circulating creatine kinase concentration, Increased musc... OMIM:610717
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... OMIM:300580
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Elevated circulating creatine... OMIM:609452
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy OMIM:271220
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... ORPHA:597
Myopathy, Myofibrillar, 8
Nemaline bodies, Gowers sign, Tall stature, Scapular winging, Elevated circulating creatine kinas... OMIM:617258
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Skeletal muscle atrophy, Myopathy ORPHA:2597
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Neonatal hypotonia, Severe muscular hypotonia, Weakness of facia... ORPHA:596
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ataxia, Exercise intolerance, Fatigue, Gait ataxia, Increased muscle fatiguability, Myopathy OMIM:613077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Muscular dystrophy, Elevated circulating creatine kinase concentra... OMIM:613151
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... OMIM:609283
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Intrinsic hand muscle atrophy, Loss of ambulation, Flexion contracture, Weakness of long finger e... ORPHA:324442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular ... OMIM:613156
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy OMIM:614302
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Facial palsy, Myopathy OMIM:253320
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Gowers sign, Short stature, Proximal muscle weakness in lower limbs, Abnormal circu... ORPHA:171706
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... OMIM:256030
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic ... ORPHA:169189
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Distal muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Increased connective tissue, Pr... OMIM:617760
Benign Samaritan Congenital Myopathy
Frog-leg posture, Centrally nucleated skeletal muscle fibers, Generalized hypotonia, Internally n... ORPHA:324581
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... OMIM:601472
Neuropathy, Hereditary Motor, With Myopathic Features
Myalgia, Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormaliti... OMIM:619216
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Distal sensory impai... OMIM:615048
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... OMIM:606070
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Sternocleidoma... ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:613154
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Knee flexion contra... OMIM:602484
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... ORPHA:219
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Infantile axial hypotonia, Developmental cataract, Abnormal muscle fiber protein expression, Hypo... ORPHA:330054
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Myotonia, Skeletal muscle atrophy, ... OMIM:310440
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Exercise intolerance, EMG: myopathic abnor... ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs... OMIM:618138
Marinesco-Sjogren Syndrome
Flexion contracture, Hypergonadotropic hypogonadism, Rimmed vacuoles, Elevated circulating creati... OMIM:248800
Laing Early-Onset Distal Myopathy
Myalgia, Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopa... 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
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Myasthenic Syndrome, Congenital, 14
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red mus... OMIM:616228
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Flexion contracture OMIM:618323
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Cellulitis, Hepatosplenomegaly, Thrombocyt... OMIM:604416
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Genetic Recurrent Myoglobinuria
Hypocalcemia, Elevated aldolase level, Type 2 muscle fiber atrophy, Arrhythmia, Myositis, Lower l... ORPHA:99845
Ataxia-Oculomotor Apraxia Type 4
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy ORPHA:459033
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Myopathy, Proximal, With Ophthalmoplegia
Distal muscle weakness, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck muscle weak... OMIM:605637
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Increased serum pyruvate OMIM:300816
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Decreased nerve conduction velocity, Distal amyotrophy, Optic atrophy, Cata... OMIM:612674
Myopathy Due To Myoadenylate Deaminase Deficiency
Exercise-induced myalgia, Rhabdomyolysis, Increased muscle fatiguability, Skeletal muscle atrophy... OMIM:615511
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... ORPHA:663
Acetazolamide-Responsive Myotonia
Myalgia, Skeletal muscle hypertrophy, Gait disturbance, Chest pain, Myotonia ORPHA:99736
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Myopathy ORPHA:154
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... ORPHA:424107
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Multiple joint contractures, Skeletal muscle atrophy, Flexion contracture OMIM:614915
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Elevated circulating creatine kinase concentration, My... ORPHA:408
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... ORPHA:272
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Myalgia, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, ... OMIM:606612
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy ORPHA:366
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Nemaline Myopathy 7
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Fatty replacement of skeletal... OMIM:610687
Thomsen And Becker Disease
Myotonia ORPHA:614
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Type II diabetes mellitus, Myopathy ORPHA:2579
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Distal muscle weakness, Elevated circulating creatine kinase concentration, Progressive external ... OMIM:617070
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Shoulder gir... OMIM:609284
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle weakness, Lower limb muscle weakness, Distal amyotrophy, Thenar muscle atrophy, Fir... OMIM:612335
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Distal amyotrophy, Tremor, Gait ataxia OMIM:617018
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Myalgia, Elevated creatine kinase after exercise, Limb-girdle muscle... ORPHA:352470
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, 2
Macular degeneration OMIM:153800
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Generalized hypotonia, Type 1 muscle fiber... OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle weakness, Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:616280
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Small for gestational age, Elevated circulating creatine kinase concentratio... OMIM:615368
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Myofibrillar Myopathy 10
Myalgia, Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertroph... OMIM:619040
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, Poor head control, Diaphragmatic weakness, EMG: myopath... OMIM:614399
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Decreased nerve conduction velocity, Abnormal pupil morphology, Skeletal... ORPHA:101082
Classic Multiminicore Myopathy
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Poor head control, Right ve... ORPHA:324604
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Exercise intolerance, Scapular winging, Elevated circ... ORPHA:254886
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Respiratory insufficiency d... OMIM:254090
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Myotonia, Skeletal muscle hypertrophy OMIM:255710
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Hypergonadotropic hypogonadism, Weakness of facial musculature, Elevated ci... ORPHA:352447
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity, Skeletal muscle atrophy OMIM:611105
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy OMIM:603034
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Myotonia, Potassium-Aggravated
Myotonia, Skeletal muscle hypertrophy OMIM:608390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, Congenital ... ORPHA:972
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, ... OMIM:619903
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Myotonia Permanens
Myalgia, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Gait disturbance, Chest pai... ORPHA:99735
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... ORPHA:98912
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Nemaline Myopathy 8
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture OMIM:615348
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Myalgia, Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps... ORPHA:206546
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Myopathy And Diabetes Mellitus
Myalgia, Exercise intolerance, Weakness of facial musculature, Pelvic girdle muscle weakness, Wea... ORPHA:2596
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Myopathy OMIM:170400
Combined Oxidative Phosphorylation Deficiency 33
Exercise intolerance, Left ventricular hypertrophy, Elevated circulating creatine kinase concentr... OMIM:617713
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:2926
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Myalgia, Exercise i... OMIM:619024
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Elbow flexion contracture, Skeletal muscle atrophy, Myop... ORPHA:97244
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Richieri Costa-Da Silva Syndrome
Inability to walk, Skeletal muscle hypertrophy, Asymmetric limb muscle stiffness, Falls, Myotonia... ORPHA:3101
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Glycogen Storage Disease X
Exercise intolerance, Exercise-induced myalgia, Elevated circulating creatine kinase concentratio... OMIM:261670
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Increased serum pyruvate, Fatigue, Abdominal pain OMIM:616794
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... OMIM:209950
Myotonia Fluctuans
Myalgia, Myotonia of the face, Myotonia with warm-up phenomenon, Fatigue, Spasticity of facial mu... ORPHA:99734
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myalgia, Truncal ataxia, Chorea, Difficulty walking, Exercise-induced muscle fatigue, Limb-girdle... ORPHA:369847
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration, Distal amyotrophy, Ventricula... OMIM:232400
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Neuronopathy, Distal Hereditary Motor, Type I
Upper limb muscle weakness, Distal amyotrophy OMIM:182960
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... ORPHA:262
Myasthenic Syndrome, Congenital, 23, Presynaptic
Calf muscle hypertrophy OMIM:618197
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Sengers Syndrome
Hypertrophic cardiomyopathy, Fatigue, Myopathy, Exercise intolerance OMIM:212350
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Congenital muscular dystrophy, Axial muscle weakness, Limb muscle w... OMIM:601170
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Myalgia, Ataxia, Exercise intolerance, Lower limb pain, Multiple lipomas, Fatigue, Gait disturban... ORPHA:1349
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy OMIM:616625
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy OMIM:615043
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... OMIM:613954
Glycerol Kinase Deficiency
Adrenal insufficiency, Muscular dystrophy, Adrenocortical hypoplasia, Hypertriglyceridemia, Crypt... OMIM:307030
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Myopathy Due To Malate-Aspartate Shuttle Defect
Exercise-induced myalgia, Elevated circulating creatine kinase concentration, Myopathy OMIM:254960
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Osteoarthritis, Abnormal inflammator... ORPHA:1320
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture OMIM:201470
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Myopathy ORPHA:300179
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myalgia, Macroglossia, Skeletal muscle hypertrophy, Hypothyroidism, Myopathy ORPHA:2349
Eosinophilic Fasciitis
Muscular edema, Myositis, Arthritis, Fasciitis, Weight loss ORPHA:3165
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Abnormal circulating creatin... OMIM:617336
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy OMIM:618234
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Myalgia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities,... ORPHA:329478
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Failure to thrive, Fatigue ORPHA:79283
Pure Mitochondrial Myopathy
Myalgia, Loss of ambulation, Exercise-induced muscle fatigue, Exercise intolerance, Quadriceps mu... ORPHA:254854
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
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
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Failure to thrive, Falls, Fatigue, Arthrogryposis multiplex congenita OMIM:616326
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elevat... OMIM:615418
Nemaline Myopathy 3
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Ty... OMIM:161800
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Acne ORPHA:69126
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic hypokalemia, Respiratory paralysis, Late-onset proxima... ORPHA:681
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevation, Foot dorsiflexor we... ORPHA:263297
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Spl... OMIM:616860
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsi... OMIM:615883
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Multiple Myeloma
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Weight... ORPHA:29073
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Elevate... OMIM:310200
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh