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Gene: Trim32 MGI:1917057

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tripartite motif-containing 32
Synonyms:
BBS11,  1810045E12Rik,  Zfp117,  3f3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Trim32 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 Trim32 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Paresthesia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy... OMIM:254110
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Tall stature, Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diam... ORPHA:1878
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Skeletal muscle atrophy, Hypogonadism, Obesity ORPHA:110

The table below shows human diseases predicted to be associated to Trim32 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Scapuloperoneal myopathy, myh7-related
Weakness of facial musculature, Scapuloperoneal myopathy, EMG: myopathic abnormalities, Myopathy OMIM:181430
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... OMIM:601954
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... ORPHA:2593
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... OMIM:608423
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus... OMIM:615424
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Somatic sensory dysfunction, Spinal muscular atrophy, Pr... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... OMIM:617158
Polyglucosan Body Myopathy 2
Shoulder girdle muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Muscle fiber pol... OMIM:616199
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... OMIM:609115
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Paresthesia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in lower limbs, Fiber type grouping, Weakness of facial musculature, Sca... OMIM:619733
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposits immunoreactive to bet... OMIM:254130
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... ORPHA:611
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... OMIM:301075
Nonaka Myopathy
Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Rimmed vacuol... OMIM:605820
Myofibrillar Myopathy 11
Overweight, Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abno... OMIM:619178
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, EMG: myopathic abnorm... ORPHA:609
Myopathy, Distal, Tateyama Type
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... OMIM:614321
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Quadriceps musc... OMIM:613319
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Scapular winging, Centrally nucleated skeletal... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of s... OMIM:608807
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... OMIM:604286
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
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Myopathy, EMG: myopathic abnormalities, Distal upper limb amyotrop... ORPHA:603
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Rimme... OMIM:618655
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... OMIM:617760
Nemaline Myopathy 6
Limb muscle weakness, Skeletal muscle atrophy, Nemaline bodies, Myopathy OMIM:609273
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Muscular dystrophy, EMG: myopathic ab... OMIM:611307
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging OMIM:310095
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital muscular d... OMIM:613204
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy, Myopathy OMIM:208100
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Tall stature, Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diam... ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Muscle fiber necro... OMIM:618848
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... OMIM:608358
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... ORPHA:34515
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Myopathy, Myofibrillar, 3
Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myof... OMIM:609200
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Merrf
Ataxia, Ragged-red muscle fibers, Myopathy ORPHA:551
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skeletal muscle, Z-band... OMIM:618823
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Weakness of orbicularis oculi muscle, Ataxia, EMG: myopathic abnormalities, ... OMIM:500002
Myopathy, Scapulohumeroperoneal
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... OMIM:616852
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a... ORPHA:178464
Klhl9-Related Early-Onset Distal Myopathy
Abnormality of the calf musculature, Distal sensory impairment, Intrinsic hand muscle atrophy, Im... ORPHA:399081
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... OMIM:614065
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of facial musculature, Z-band s... OMIM:181400
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal sensory impairment, Fiber type grouping OMIM:614369
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Joint contr... OMIM:610099
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myasthenic Syndrome, Congenital, 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Muscl... OMIM:616228
Congenital Myopathy 18
Increased endomysial connective tissue, Centrally nucleated skeletal muscle fibers, Increased var... OMIM:620246
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness OMIM:616094
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Distal sensory impairment, Somatic sensory dysfunction, Upper limb amyotro... OMIM:616924
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed... OMIM:603511
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... OMIM:618940
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Flexion con... OMIM:609308
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Ragged-red muscle fibers, Myopathy OMIM:545000
Distal Myopathy With Anterior Tibial Onset
Somatic sensory dysfunction, Intrinsic hand muscle atrophy, Finger flexor weakness, Tibialis musc... ORPHA:178400
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... OMIM:619566
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... OMIM:611705
Bethlem Myopathy 1
Camptodactyly of finger, Torticollis, Myopathy, Skeletal muscle atrophy, Congenital muscular tort... OMIM:158810
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Lower limb muscle weakness, Pelvic girdle amyotrophy, Hamstring contractures, Muscular dystrophy,... ORPHA:267
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... OMIM:614302
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy ORPHA:270
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Shoulder girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Fatty replace... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Muscular dystrophy, Proximal amyotrophy, Scapular winging OMIM:601287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... OMIM:253700
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Muscular Dystrophy, Congenital, 1B
Shoulder girdle muscle weakness, Sternocleidomastoid amyotrophy, Pectoralis amyotrophy, Achilles ... OMIM:604801
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... ORPHA:86812
Neuropathy, Hereditary Motor, With Myopathic Features
Lower limb amyotrophy, Proximal muscle weakness in lower limbs, Paresthesia, Distal lower limb mu... OMIM:619216
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibe... OMIM:615422
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Lower limb muscle ... OMIM:608810
Congenital Myopathy 3 With Rigid Spine
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Failure to thrive, Facia... OMIM:602771
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... OMIM:613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skeletal muscle f... OMIM:617066
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Overweight, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle ... ORPHA:486815
Distal Myopathy, Tateyama Type
Distal sensory impairment, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Abnormal ... ORPHA:488650
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Failure to thrive, Abnormal... ORPHA:598
Congenital Myopathy With Myasthenic-Like Onset
Rhabdomyolysis, Minicore myopathy, Myopathy, Type 1 muscle fiber predominance, EMG: myopathic abn... ORPHA:424107
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Distal lower limb muscle ... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular dystrophy, Increased endomys... OMIM:608099
Marinesco-Sjogren Syndrome
Limb ataxia, Ataxia, Myopathy, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Failure t... OMIM:248800
Distal Nebulin Myopathy
Slender build, Sternocleidomastoid amyotrophy, Weakness of facial musculature, EMG: myopathic abn... ORPHA:399103
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Proximal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Scapula... OMIM:253600
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Facial palsy, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers OMIM:616209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy OMIM:613723
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Facial palsy, Decreased body weight, Type 1 fibers relativel... OMIM:300580
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Hip contracture,... OMIM:619042
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Failure to thrive, Female infertility, Centrally nucleated skele... OMIM:619518
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... OMIM:616313
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Wea... OMIM:160565
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle weakness, Scapula... OMIM:619477
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... OMIM:620068
Creatine Phosphokinase, Elevated Serum
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... OMIM:123320
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb amyotrophy, Peroneal muscle atrophy, Neck joint contracture, Distal lower limb ... OMIM:181350
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... OMIM:255320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Weakness of facial musculature, Flexion contracture of finger, Increas... OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan OMIM:615352
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Muscle fiber inclusion bodies... ORPHA:399058
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... ORPHA:206549
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Amyotrophic Lateral Sclerosis 21
Distal sensory impairment, Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Ha... OMIM:606070
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle weakness, Hand ... ORPHA:437572
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... OMIM:616812
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Increased endom... OMIM:620138
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Central core regions in muscle fibers, Chorea, Centrally nucleated skeletal muscle fibers... ORPHA:401768
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf muscle hypertr... OMIM:616827
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Shoulder flexio... OMIM:605355
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy OMIM:300376
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: myopathic abno... OMIM:300696
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Congenital Myopathy 6 With Ophthalmoplegia
Myopathy, Type 1 muscle fiber predominance, Scapular winging, Muscle fiber inclusion bodies, Cong... OMIM:605637
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Ragged-red muscle fibers, Myopathy OMIM:618242
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Myofibrillar myopathy, Nemaline bodies,... ORPHA:97240
Adult-Onset Nemaline Myopathy
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... ORPHA:171442
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, EMG: myopathic abnormalities, Ragged-red muscle fibers OMIM:609283
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a... OMIM:611588
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variabili... OMIM:300717
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging ORPHA:62
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Sandhoff Disease, Adult Form
Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait ataxia, Muscle fiber at... ORPHA:309169
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, EMG: myopathic abn... ORPHA:370980
Congenital Disorder Of Glycosylation, Type Iid
Decreased muscle mass, Myopathy OMIM:607091
Finnish Upper Limb-Onset Distal Myopathy
Distal sensory impairment, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Fatty rep... ORPHA:399086
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Necklace skeletal muscle fibers, Centrally nucleated skeletal mus... ORPHA:596
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Congenital Myopathy 4A, Autosomal Dominant
Failure to thrive, Facial palsy, Centrally nucleated skeletal muscle fibers, Limb joint contractu... OMIM:255310
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Congenital muscular dystrophy, Increased endomysial connective tissue OMIM:607855
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Ataxia, Increased variab... OMIM:619065
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathi... OMIM:255160
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Generalized amyotrophy, Elbow flexion contracture, Joint contracture OMIM:616516
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:616470
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle weakness, Myopathy, Distal amyotrophy, Pelvic girdle amyotrophy, Shoulder ... OMIM:167320
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Nemaline Myopathy 2
Arthrogryposis multiplex congenita, Slender build, Sternocleidomastoid amyotrophy, Muscle fiber s... OMIM:256030
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Facial diplegia, Distal lower limb muscle weakness, Shoulder girdle... OMIM:609284
Oculopharyngodistal Myopathy 3
Ataxia, Distal amyotrophy, Weakness of facial musculature, Increased endomysial connective tissue... OMIM:619473
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Congenital muscular dystrophy OMIM:613151
Scapuloperoneal Myopathy, X-Linked Dominant
Lower limb muscle weakness, Forearm supination contracture, Skeletal muscle atrophy, Knee flexion... OMIM:300695
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Proximal lower limb a... OMIM:310440
Congenital Myopathy 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Incre... OMIM:618414
Muscular Dystrophy, Congenital, Lmna-Related
Hamstring contractures, Elbow contracture, Achilles tendon contracture, Upper limb muscle weaknes... OMIM:613205
Congenital Myopathy 8
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Internall... OMIM:618654
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Myopathy OMIM:551500
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Type 1 muscle fiber predominance, EMG: myopathic abnorma... ORPHA:169189
Nemaline Myopathy 7
Minicore myopathy, Shoulder girdle muscle weakness, Weakness of facial musculature, Knee flexion ... OMIM:610687
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Achi... OMIM:608840
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle atrophy... OMIM:619903
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystrophy, Calf muscle pseudohypert... ORPHA:280333
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,... OMIM:603689
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Camptodactyly of finger, Skeletal muscle atrophy, Aplasia/Hypoplasia involvin... ORPHA:2926
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle... OMIM:255200
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, Rimmed vacuoles, In... OMIM:300718
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Proximal amyotrophy, Weakness of orbicularis oculi muscle, Shoulder... ORPHA:2596
Nemaline Myopathy 8
Flexion contracture, Facial palsy, Myofibrillar myopathy, Nemaline bodies OMIM:615348
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal sensory impairment, Fiber type grouping, Lower limb muscle weakness, Type 1 muscle fiber p... OMIM:608340
Myopathy, Myofibrillar, 8
Joint contracture of the 5th finger, Central core regions in muscle fibers, Nemaline bodies, Scap... OMIM:617258
Myasthenic Syndrome, Congenital, 5
Myopathy, Decreased muscle mass, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, L... OMIM:603034
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Slender build, Facial diplegia, Myopathy, Type 1 muscle fiber... ORPHA:171439
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... OMIM:619542
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Distal Myotilinopathy
Distal amyotrophy, Multiple joint contractures, EMG: myopathic abnormalities, Abnormal muscle fib... ORPHA:98911
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... ORPHA:98905
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy OMIM:613869
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Intrinsic hand muscle atrophy, Impaired distal vibration sensation, Tric... OMIM:619574
Central Core Disease
Myopathy, Type 1 muscle fiber predominance, Central core regions in muscle fibers, Nemaline bodie... ORPHA:597
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Leber Hereditary Optic Neuropathy
Ataxia, Myopathy ORPHA:104
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacem... OMIM:619790
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Skeletal muscle atrophy, Scapula... OMIM:158900
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... ORPHA:59135
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Generalized amyotrophy, Myopathy OMIM:618323
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Intrinsic hand muscle atrophy, Facial palsy ORPHA:178145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging OMIM:617069
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Slender build, Myopathy ORPHA:352470
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Muscular dystrophy, Facial palsy, Congenital muscular dystrophy, Calf muscle hypert... OMIM:613155
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, EMG: myopathic abnormalities, Failure to thrive, Facial palsy, Muscle fi... OMIM:614399
Myopathy, Centronuclear, 5
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Hip contracture OMIM:615959
Rigid Spine Syndrome
Myopathy, Hamstring contractures, Skeletal muscle atrophy, Hip contracture, Elbow flexion contrac... ORPHA:97244
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... OMIM:613954
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Hypoesthesia, Sensory ataxia, Impaired distal tactile sensation, Dysmetria, Fiber type grouping, ... OMIM:607459
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Myopathy, Increased muscle glycogen content, Increased muscle lipid content, Ragged... ORPHA:254864
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Type 2 muscle fiber atrophy, Myopathy OMIM:605809
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Ragged-red muscle fibers, Athetosis OMIM:615159
Myopathy, Distal, 1
Tibialis anterior muscle atrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predomin... OMIM:160500
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan OMIM:615350
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Muscle fiber tubular inclus... ORPHA:353327
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Increased endomysial connective tissue, Muscular dystrophy, Myopathy OMIM:602541
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Ataxia, Increased variability in muscle fiber diameter OMIM:617915
Bethlem Myopathy
Limb-girdle muscle weakness, Camptodactyly of finger, Reduced muscle collagen VI, Muscular dystro... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Lower limb muscle weakness, Hypoglycosylation of alpha-dystroglycan, Scapular wingi... OMIM:616052
Autosomal Recessive Progressive External Ophthalmoplegia
Distal sensory impairment, Paresthesia, Ataxia, Myopathy, Hand muscle weakness, Muscle fiber atro... ORPHA:254886
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Kne... OMIM:310300
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Increased muscle glycogen content, Failure to thrive, Hypertrophied muscle fibers, ... OMIM:500009
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles tendon contra... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Internally nucl... OMIM:618138
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Scapular winging... ORPHA:169186
Congenital Myopathy 23
Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Nemaline bodies, Scap... OMIM:609285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Joint contracture, Generalized limb ... OMIM:615351
Myopathy, Myofibrillar, 6
Lower limb muscle weakness, Muscular dystrophy, Knee flexion contracture, Myofibrillar myopathy, ... OMIM:612954
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Distal lo... ORPHA:171706
Spinal Muscular Atrophy, X-Linked 2
Spinal muscular atrophy, Myopathy, Facial palsy, Flexion contracture, Arthrogryposis multiplex co... OMIM:301830
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abnormal muscle fiber morpho... ORPHA:75840
Amish Nemaline Myopathy
Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder fle... ORPHA:98902
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Myopathy, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, F... ORPHA:272
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Pelvic girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:119
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Congenital contracture, Centrally nucleated skeletal muscle fibers, Small fo... OMIM:615368
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Disproportionate tall stature, Skeletal muscle atrophy, Myopathy ORPHA:300179
Ataxia-Oculomotor Apraxia Type 4
Muscular dystrophy, Progressive distal muscular atrophy, Distal lower limb muscle weakness ORPHA:459033
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Ataxia, Failure to thrive OMIM:618276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular hypertrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Faci... OMIM:613156
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Myopathy ORPHA:91130
Glycogen Storage Disease Ixd
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen... OMIM:300559
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:98855
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal amyotrophy, Ragged-red muscle fibers OMIM:610542
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Skeletal muscle atrophy, Cachexia, Myopathy ORPHA:157973
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Failure to thrive, Myopathy OMIM:618237
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Congenital Myopathy 15
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... OMIM:620161
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Spinal muscular atrophy, Weakness of facial musculature, ... ORPHA:1145
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Increased variability in muscle fiber diameter OMIM:613752
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Impaired distal vibration sensation, Weakness of facial musculature, Muscle fiber at... OMIM:258450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atroph... OMIM:606612
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers ORPHA:480
Glutamate-Cysteine Ligase Deficiency
Ataxia, Myopathy ORPHA:33574
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Fatty replacement of skeletal... ORPHA:397744
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Shoulder girdle muscle weakness, Myopathy, Pelvic girdle muscle weakness, Generali... OMIM:615156
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Increased variability in muscle fiber diameter OMIM:617235
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Ataxia, Weakness of facial musculature, Choreoathetosis, Ragged-red muscle fibers OMIM:618416
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Alcohol-induce... OMIM:154275
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Striatonigral Degeneration, Infantile, Mitochondrial
Paroxysmal choreoathetosis, Ragged-red muscle fibers, Chorea OMIM:500003
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Failure to thrive, Inc... OMIM:617228
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Myopathy OMIM:615980
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Weakness of facial musculature, Muscle fiber atrophy, Right ventricu... ORPHA:324604
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:98863
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:98853
Spinocerebellar Ataxia 28
Limb ataxia, Somatic sensory dysfunction, Gait ataxia, Lower limb hypertonia, Ragged-red muscle f... OMIM:610246
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Skeletal muscle hypertrophy, Myopathy ORPHA:2349
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Increased variability in muscle fiber diameter OMIM:614096
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myopathy ORPHA:26792
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Impaired... OMIM:157640
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Myopathy ORPHA:2598
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy OMIM:610717
Congenital Myopathy 2A, Typical, Autosomal Dominant
Slender build, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Nemaline bodies, F... OMIM:161800
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Alcohol-induce... OMIM:154276
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Chorea, Limb-girdle muscular dystrophy, Trunc... ORPHA:369840
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, EMG: myopathic abnorm... ORPHA:206569
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss OMIM:613662
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Shoulder flexion contractu... OMIM:617114
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Decreased muscle mass, S... ORPHA:57
Intermediate Nemaline Myopathy
Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, EMG: myopathic abnorm... ORPHA:171433
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Weakness of facial musculature, Hypergonadotropic hypogonadism, Generalized amyotrophy,... ORPHA:352447
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, ... ORPHA:178148
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnorm... ORPHA:99939
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Slender build, Type 1 muscle fiber predominance, Failure... OMIM:254090
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Distal sensory impairment, Shoulder girdle muscle weakness, ... ORPHA:600
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, ... OMIM:609560
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Proximal muscle weakness in lower limbs, Hypoglycosylation of alpha-dystroglycan, S... ORPHA:352479
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Distal amyotrophy, Facial palsy, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Ankle ... OMIM:617519
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Myopathy OMIM:618234
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Ataxia, Dysmetria OMIM:619028
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Facial diplegia, Intrinsic hand muscle atrophy... ORPHA:329478
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skeletal muscle atrophy, Increased v... OMIM:616867
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Myopathy, Weakness of facial musculature, Failure to thrive in infancy, ... ORPHA:254875
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Failure to thriv... ORPHA:536516
Duchenne And Becker Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:262
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Lower limb muscle weakness, Impaired vibration sensation in the lowe... ORPHA:99013
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Distal sensory impairment, Premature ovarian insufficiency, Ataxia, Foot... OMIM:618124
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Lethal Congenital Contracture Syndrome 9
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... OMIM:616503
Congenital Myopathy 16
Flexion contracture, EMG: myopathic abnormalities, Scapular winging OMIM:618524
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Ataxia, Myopathy OMIM:300653
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Nemaline bodies, Myopathy OMIM:616549
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Fiber type grouping, Distal lower limb muscle weakness, Impaired pr... OMIM:500013
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Typical Nemaline Myopathy
Facial diplegia, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Facial palsy, Foot ... ORPHA:171436
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy OMIM:232400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle... ORPHA:52430
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Postsynaptic Congenital Myasthenic Syndromes
Shoulder girdle muscle weakness, Type 1 muscle fiber predominance, Triceps weakness, Skeletal mus... ORPHA:98913
Congenital Myopathy 24
Type 1 muscle fiber predominance, Facial palsy, Nemaline bodies, Scapular winging OMIM:617336
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... OMIM:615418
Pparg-Related Familial Partial Lipodystrophy
Oligomenorrhea, Dysmenorrhea, Primary amenorrhea, Myopathy, Skeletal muscle hypertrophy, Calf mus... ORPHA:79083
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Failure to thrive, Centrally nucleated skeletal ... OMIM:613327
Marinesco-Sjögren Syndrome
Hypogonadism, Myopathy, Ataxia, Muscular dystrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia i... ORPHA:559
Scapuloperoneal Spinal Muscular Atrophy
Distal sensory impairment, Torticollis, Peroneal muscle atrophy, Muscle fiber splitting, Peroneal... OMIM:181405
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Ataxia, Left ventricular noncompaction, Flexion contractu... OMIM:252011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy OMIM:615181
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Limb-girdle muscular dystrophy, Truncal ataxia, Myopathy ORPHA:369847
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Distal lower limb muscle weakness, Proximal upper limb muscle hypertrophy, Decreased cervical spi... ORPHA:254361
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Fiber type grouping, Plantar flexion contracture, Wrist drop, Distal arthrogryposis, Arthrogrypos... OMIM:620011
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Hypogonadism, EMG: myopathic abnormalities, Sensory ataxia, Ragg... OMIM:609286
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Lower limb muscle weakness, Upper limb muscle weakness, Type 2 mus... OMIM:601462
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Myopathy, Skeletal muscle hypertrophy, Secondary amenorrhea, Abnormality of skeleta... ORPHA:2348
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Progressive cerebellar ataxia, Primary amenorrhea, Weakness of facia... ORPHA:502423
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Abnormal muscle fiber morphology, Facial palsy... ORPHA:171881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Camptodactyly, Knee flexion contracture, Ankle flexion contracture OMIM:608799
Sengers Syndrome
Premature ovarian insufficiency, Myopathy OMIM:212350
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Skeletal muscle atrophy, Facial palsy, Type 2 muscle fiber atrophy, Arthro... OMIM:608931
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Weakness of facial musculature, Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multipl... OMIM:608930
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Achilles tendon contracture... OMIM:310200
Myopathy, Mitochondrial, And Ataxia
Distal sensory impairment, Limb ataxia, Primary amenorrhea, Ataxia, Distal amyotrophy, Dysdiadoch... OMIM:617675
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Failure to thrive in infancy, Increased variability in muscle fiber diameter OMIM:619026
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Ataxia, Myopathy ORPHA:1215
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Ragged-red muscle fibers, Failure to thrive OMIM:613561
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Hypergonadotropic hypogonadism, Facial palsy, Generalized amyotrophy, Ragged... OMIM:615084
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Shoulder girdle muscle weakness, Achilles tendon contracture, Thigh hypertrophy, Co... OMIM:607155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Ataxia, Myopathy OMIM:613077
Myopathy With Lactic Acidosis, Hereditary
Rhabdomyolysis, Myopathy, Skeletal muscle atrophy, Increased variability in muscle fiber diameter... OMIM:255125
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Cachexia ORPHA:42
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Lower limb muscle weakness, Skeletal muscle atrophy,... OMIM:604360
Atrial Standstill
Left ventricular noncompaction, Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy ORPHA:1344
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Facial palsy, Disproportionate tall st... ORPHA:3068
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Myopathy, Ataxia, Weakness of facial musculature, Skeletal muscle atrophy, Scapular... ORPHA:98673
Combined Oxidative Phosphorylation Deficiency 24
Weakness of facial musculature, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy OMIM:616239
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers ORPHA:663
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Positive Romberg sign, Gait ataxia, Impaired vibratory sensation, Impaired distal proprioception,... ORPHA:70595
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Fiber type grouping, Distal amyotrophy, Athetosis, Hypergonadotropic hypogonadism OMIM:271245
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ataxia, Lower limb muscle weakness, Skeletal muscle atrophy, Positive Romberg sign, Ragged-red mu... OMIM:616479
Combined Oxidative Phosphorylation Defect Type 13
Type 1 muscle fiber predominance, Failure to thrive, Type 2 muscle fiber atrophy, Lower limb hype... ORPHA:319514
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Ataxia, Myopathy ORPHA:713
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Knee flexion contracture, Failure to thrive, Ankle flexion contra... OMIM:619461
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Myopathy ORPHA:363400
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Chanarin-Dorfman Syndrome
Ataxia, Myopathy OMIM:275630
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy, Knee flexion contract... ORPHA:3208
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity OMIM:618822
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Flexion contracture, Muscle fiber atrophy, Failure to thrive OMIM:620240
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Myopathy, Weakness of facial musculature, Failure to thrive, Flexion contracture OMIM:201470
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Adrenomyodystrophy
Failure to thrive, Myopathy ORPHA:977
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Cachexia, Myopathy ORPHA:1876
Chylomicron Retention Disease
Impaired proprioception, EMG: myopathic abnormalities, Failure to thrive, Myopathy ORPHA:71
Neuronopathy, Distal Hereditary Motor, Type X
Small thenar eminence, Fiber type grouping, Distal lower limb muscle weakness, Scapular winging, ... OMIM:620080
Axial Osteomalacia
Myopathy OMIM:109130
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal neuron branching, Myopathy, Skeletal muscle atrophy, Failure to thrive, Abnormal muscle ... ORPHA:367
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, S... ORPHA:370959
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic abnormalities, Flexion con... OMIM:619040
Leber Optic Atrophy
Ataxia, Myopathy OMIM:535000
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Decreased muscle mass, Cachexia, Hypergonadotropic hypogonadism, Foot dorsiflexor we... ORPHA:298
Optic Atrophy 11
Ataxia, Fiber type grouping, Facial diplegia, Athetosis, Increased variability in muscle fiber di... OMIM:617302
Hyperkalemic Periodic Paralysis
Paresthesia, Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Flexion contracture ORPHA:682
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Myopathy OMIM:604377
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Muscle fiber atrophy, Increased vari... OMIM:616866
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Myopathy, Myofibrillar, 1
Facial palsy, EMG: myopathic abnormalities OMIM:601419
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter OMIM:616538
Combined Oxidative Phosphorylation Deficiency 54
Hypoesthesia, Primary amenorrhea, Lower limb muscle weakness, Hypergonadotropic hypogonadism, Imp... OMIM:619737
Hypotonia-Cystinuria Syndrome
Facial palsy, Failure to thrive, Ragged-red muscle fibers, Hypergonadotropic hypogonadism OMIM:606407
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Muscular dystrophy OMIM:615249
Immunodeficiency 9
Failure to thrive, Myopathy OMIM:612782
Neutral Lipid Storage Myopathy
Shoulder girdle muscle weakness, Myopathy, Hand muscle weakness, Obesity, Fatty replacement of sk... ORPHA:98908
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Failure to thrive, Myopathy OMIM:212140
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, Ataxia, Myopathy, EMG: myopathic abnormalities, Increased intram... ORPHA:98907
Dpm1-Cdg
Muscular dystrophy, Camptodactyly, Knee flexion contracture ORPHA:79322
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Absent muscle fiber merosin, Muscular dystrophy, Muscle fiber atrophy, Facial palsy... ORPHA:258
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ataxia, Ragged-red muscle fibers ORPHA:1349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Increased endomysial connective tissue, Muscular dystrophy OMIM:613154
Immunodeficiency 10
Myopathy OMIM:612783
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Ataxia, Distal amyotrophy, Muscle fiber atrophy, Skeletal muscle atrophy, Amyotrophi... ORPHA:300605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased ... OMIM:613150
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Increased body weight OMIM:614450
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Increased variability in muscle fiber diameter OMIM:615595
Primary Lipodystrophy
Menometrorrhagia, Skeletal muscle hypertrophy, Myopathy ORPHA:90970
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Right ventricul... OMIM:612949
Xanthinuria, Type I
Myopathy OMIM:278300
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Ataxia, Distal amyotrophy, EMG: myopathic abnormalities, Facial palsy, Rimme... OMIM:164310
Synaptic Congenital Myasthenic Syndromes
Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Right ... ORPHA:98915
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Mcleod Syndrome
Rhabdomyolysis, Chorea, Impaired vibration sensation at ankles, Myopathy OMIM:300842
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Small for gestational age, Failure to thrive, Myopathy OMIM:609015
Adrenal Hypoplasia, Congenital
Muscular dystrophy OMIM:300200
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Limb muscle weakness, Limb-girdle muscle weakness, Skeletal muscle atrophy, Myopathy OMIM:112250
Xp21 Deletion Syndrome
Decreased muscle mass, Hypogonadotropic hypogonadism, Calf muscle hypertrophy, Myopathy ORPHA:261476
Cortisone Reductase Deficiency 1
Oligomenorrhea, Obesity, Infertility OMIM:604931
Walker-Warburg Syndrome
Muscular dystrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature ORPHA:899
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Scapular winging OMIM:613507
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Glycogen Storage Disease Xii
Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy OMIM:611881
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Autosomal Dominant Progressive External Ophthalmoplegia
Shoulder girdle muscle weakness, Facial diplegia, Left ventricular hypertrophy, Hypomimic face, M... ORPHA:254892
Cystinosis
Failure to thrive, Myopathy ORPHA:213
Usher Syndrome
Decreased fertility, Ataxia, Myopathy ORPHA:886
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Failure to thrive, Myopathy ORPHA:99901
Myasthenic Syndrome, Congenital, 19
Facial palsy, Increased variability in muscle fiber diameter OMIM:616720
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle ... ORPHA:171430
Idiopathic Camptocormia
Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Fat... ORPHA:1320
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy ORPHA:88618
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Myopathy ORPHA:228305
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy, Dysmetria, Hypomimic face ORPHA:93952
Bardet-Biedl Syndrome 22
Large for gestational age, Hypogonadism, Obesity OMIM:617119
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity ORPHA:314795
Carcinoid Syndrome
Myopathy ORPHA:100093
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Failure to thrive, Ragged-red muscle fibers, Generalized limb muscle atrophy OMIM:600462
Native American Myopathy
Camptodactyly, Muscle fiber atrophy, Skeletal muscle atrophy, Congenital contracture, Arthrogrypo... ORPHA:168572
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Myopathy, Male infertility, Oligospermia, Weight loss ORPHA:85450
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers, Hypergonado... OMIM:607426
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Ataxia, Choreoathetosis, Wrist flexion contracture, Male hypogonadism, Facia... OMIM:300055
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Neu-Laxova Syndrome
Arthrogryposis multiplex congenita, Muscular dystrophy, Skeletal muscle atrophy, Aplasia/Hypoplas... ORPHA:2671
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Shoulder girdle muscle weakness, Decreased muscle mass, EMG: myopathic abnormalities, Upper limb ... ORPHA:263297
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Type 1 fibers relatively smaller than type 2 fibers OMIM:619424
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Hypogonadism, Weakness of facial musculature, Type 2 muscle fiber... OMIM:602668
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Obesity ORPHA:412035
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Obesity OMIM:184700
Carey-Fineman-Ziter Syndrome
Facial palsy, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Myopathy ORPHA:1358
Melas
Abnormal mitochondria in muscle tissue, Ataxia, Myopathy, Failure to thrive, Hypogonadotropic hyp... ORPHA:550
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Myopathy, Proximal upper limb muscle hypertrophy, Skeletal muscle hypertrophy, Musc... ORPHA:280365
Wilson Disease
Proximal muscle weakness in lower limbs, Failure to thrive, Abnormality of the menstrual cycle, I... ORPHA:905
Carey-Fineman-Ziter Syndrome 1
Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Failure... OMIM:254940
Danon Disease
Lower limb amyotrophy, EMG: myopathic abnormalities, Myocardial necrosis, Generalized amyotrophy,... OMIM:300257
Combined Oxidative Phosphorylation Deficiency 11
Myopathy OMIM:614922
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hyperesthesia, Knee flexion contracture, EMG: myopathic abnormalities, Cachexia, Hip contracture,... ORPHA:371364
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Left ventricular hypertrophy OMIM:617713
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Small for gestational age, Overgrowth, Large for gestational age ORPHA:254534
Scleromyxedema
Abnormal skeletal muscle morphology, Myopathy ORPHA:167635
Polymyositis
Abnormal muscle fiber morphology, Weight loss ORPHA:732
Abetalipoproteinemia
Ataxia, Myopathy, Distal lower limb muscle weakness, Impaired proprioception, Failure to thrive, ... ORPHA:14
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Non Rare In Europe: Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759