Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kelch-like 31
Synonyms:
Kbtbd1,  D930047P17Rik,  9830147P19Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Klhl31 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Klhl31 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212160
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature OMIM:181430
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Fa... OMIM:500002
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Salih Myopathy
Myopathy, Mitochondrial depletion, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Ce... OMIM:611705
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy, Decreased activity of mitochondrial respiratory chain OMIM:613076
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapular winging, Myofibrillar myopathy, ... OMIM:300695
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy OMIM:253900
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Decreased activity of mitochondrial complex IV, Increased intramyocellular lipid droplets, Weakne... OMIM:619062
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... OMIM:614065
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Nemaline Myopathy 7
Nemaline bodies, Minicore myopathy, Myofibrillar myopathy OMIM:610687
Myopathy, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... OMIM:158810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Fl... OMIM:618484
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Congenital Myopathy With Myasthenic-Like Onset
Myopathy, Minicore myopathy, Failure to thrive, Scapular winging, EMG: myopathic abnormalities, M... ORPHA:424107
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accu... OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Bethlem Myopathy 2
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:619024
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Decreased activity of mitocho... ORPHA:254864
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... OMIM:612937
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, ... ORPHA:399081
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Pleoconial Myopathy With Salt Craving
Proximal amyotrophy, Myopathy OMIM:262900
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Slender build, Decreased mitochondrial number, Multiple joint contractures, Limb-girdle... ORPHA:352470
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... ORPHA:437572
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... OMIM:617072
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... ORPHA:171442
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies OMIM:605637
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... OMIM:619216
Myopathy, Centronuclear, 2
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... OMIM:255200
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... ORPHA:399086
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Myopathy, Myofibrillar, 2
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... OMIM:608810
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Flexion contracture OMIM:618323
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy OMIM:182920
Nemaline Myopathy 1
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... OMIM:609284
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Myopathy, Abnormality of the mitochondrion ORPHA:91130
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... OMIM:610099
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy OMIM:616321
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:399058
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Leber Hereditary Optic Neuropathy
Myopathy, Mitochondrial respiratory chain defects ORPHA:104
Nemaline Myopathy 8
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture OMIM:615348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... OMIM:611307
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, Mitochondrial swelling, EMG: myopathic abnormalities, Increased variability in muscle f... ORPHA:397744
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... OMIM:310300
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Decreased activity of mitochondrial complex III, Increased intramyocellular lipid dropl... OMIM:255125
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Flexion contracture, Centr... OMIM:248800
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Rimmed vacuoles OMIM:300696
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... OMIM:167320
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:603034
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m... OMIM:616812
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Small for gestational age, Flexion contracture, Conge... OMIM:615368
King-Denborough Syndrome
Minicore myopathy, Weakness of facial musculature, Failure to thrive, Muscle fiber atrophy, Centr... OMIM:619542
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystroph... ORPHA:280333
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Fiber type grouping, Decreased activity of mitochondrial complex IV, D... OMIM:500013
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... ORPHA:98902
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co... ORPHA:597
Myopathy, Distal, 1
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon... OMIM:160500
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... ORPHA:169189
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles OMIM:617760
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Elbow flexion contrac... ORPHA:97244
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Myopathy OMIM:618234
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:605809
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Myopathy, Facial palsy, Flexion contracture OMIM:201470
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities OMIM:608807
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... ORPHA:353327
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Decreased activity of mitochondrial complex IV, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General... OMIM:617258
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Myopathy, Facial palsy, Congenital muscular dystrophy OMIM:602541
Combined Oxidative Phosphorylation Deficiency 28
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... OMIM:616794
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... ORPHA:119
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Muscular dystrophy, Limb-gird... OMIM:613818
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Scapular win... OMIM:609285
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Myasthenic Syndrome, Congenital, 14
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Myopathy, Myofibrillar, 6
Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion contracture, Mus... OMIM:612954
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles ORPHA:263494
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... OMIM:616052
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... ORPHA:370980
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... OMIM:602771
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy ORPHA:369840
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Skeletal muscle atrophy, Cachexia, Flexion contracture ORPHA:157973
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Barth Syndrome
Failure to thrive, Abnormal mitochondrial morphology, Skeletal myopathy OMIM:302060
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Multiple joint c... OMIM:301830
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers ORPHA:663
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsic hand muscle atro... OMIM:619574
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... ORPHA:34515
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Flexion contracture OMIM:310440
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Generalized amyotrophy, Decre... ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content OMIM:611556
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy OMIM:618242
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... ORPHA:57
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myopathy ORPHA:26792
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Malignant Hyperthermia, Susceptibility To, 2
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... OMIM:154275
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... ORPHA:178148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98855
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis, EMG: myopat... ORPHA:206569
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Muscle fiber atrophy, Sca... ORPHA:254886
Carnitine Deficiency, Systemic Primary
Failure to thrive, Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212140
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:614924
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV... OMIM:615418
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Hypoglycosylation... ORPHA:352479
Malignant Hyperthermia, Susceptibility To, 3
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... OMIM:154276
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy ORPHA:300179
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Increased mitochondrial number, EMG: myopathic abnormalities, Shoulder gir... ORPHA:263297
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Myopathy, Flexion contracture OMIM:618237
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Nemaline Myopathy 3
Limb muscle weakness, Slender build, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis m... OMIM:161800
Combined Oxidative Phosphorylation Defect Type 27
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ... ORPHA:477774
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy ORPHA:262
Congenital Muscular Dystrophy, Fukuyama Type
Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Flexion contracture, Campt... ORPHA:272
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98863
Sengers Syndrome
Myopathy OMIM:212350
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98853
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Adrenomyodystrophy
Myopathy OMIM:300270
Myopathy, Congenital, With Tremor
Scapular winging, EMG: myopathic abnormalities, Flexion contracture OMIM:618524
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Failure to thrive in infancy, Skeletal muscle atrophy, Weakness of facial musculature, ... ORPHA:254875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial palsy, Joint contr... OMIM:608840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... OMIM:618138
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Flexion contracture OMIM:616549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... OMIM:253700
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy, Small for gestational age OMIM:307030
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis OMIM:300653
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... ORPHA:254361
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets OMIM:612016
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea... ORPHA:98913
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intramyocellular lipi... OMIM:252011
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Failure to thrive OMIM:618378
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Upper limb muscle weakness, Lower limb muscle weakness, EMG: myopathic abnormalities, Distal amyo... ORPHA:99939
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Bethlem Myopathy
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... ORPHA:610
Typical Nemaline Myopathy
Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture,... ORPHA:171436
Adrenomyodystrophy
Failure to thrive, Myopathy ORPHA:977
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Immunodeficiency 9
Failure to thrive, Myopathy OMIM:612782
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Facial palsy, Arthro... OMIM:608931
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Congenital muscular dystrophy, Facial palsy, EMG: myopathic abnormalities, Limb muscle weakness OMIM:601170
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Classic Multiminicore Myopathy
Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Fa... ORPHA:324604
Axial Osteomalacia
Myopathy OMIM:109130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Macroglossia, Achilles tendon contracture, Shoulder girdle muscle atrophy, S... OMIM:606612
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Oculogastrointestinal Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Cachexia ORPHA:1876
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy OMIM:617713
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Cachexia, Skeletal muscle atrophy, Decreased plasma total carnitine ORPHA:42
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Mitochondrial respiratory chain defects, Type 2 muscle fiber atrophy, ... ORPHA:319514
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Myopathy, Skeletal muscle atrophy, Failure to thrive, Abnormal muscle glycogen content, Flexion c... ORPHA:367
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:85329
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Rhabdomyolysis, Decreased plasma free carnitine, Decreased plasma total carnitine ORPHA:228305
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... OMIM:181405
Carey-Fineman-Ziter Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Facial palsy, Pectoralis hypoplasia, Flexio... OMIM:254940
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abnormalities, Mus... OMIM:258450
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, EMG: myopathic abnormalities OMIM:618822
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Cap Myopathy
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... ORPHA:171881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... ORPHA:98905
Immunodeficiency 10
Myopathy OMIM:612783
Myofibrillar Myopathy 10
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... OMIM:619040
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness ORPHA:1215
Xanthinuria, Type I
Myopathy OMIM:278300
Chylomicron Retention Disease
Failure to thrive, Myopathy, EMG: myopathic abnormalities ORPHA:71
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, Failure to thrive, EMG: myopathic abnormalities, Decreased plasma carnitine, Decreased ... ORPHA:99901
Myopathy, Myofibrillar, 1
Facial palsy, EMG: myopathic abnormalities OMIM:601419
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis ORPHA:713
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diameter OMIM:619334
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Abnormality of the mitochondrion ORPHA:330050
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal mus... ORPHA:559
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Mcleod Syndrome
Myopathy, Rhabdomyolysis OMIM:300842
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Marked muscular... ORPHA:79083
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Foot dorsiflexor weakness... ORPHA:298
Combined Oxidative Phosphorylation Deficiency 24
Facial palsy, Myopathy, Skeletal muscle atrophy OMIM:616239
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Leber Optic Atrophy
Myopathy OMIM:535000
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Myopathy, Rhabdomyolysis, Small for gestational age OMIM:609015
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in m... ORPHA:52430
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... OMIM:616867
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy ORPHA:363400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Weight loss, Slender build, Distal amyotrophy OMIM:603041
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Skeletal myopathy, Weight loss, Knee flexion contracture, Left ventricul... ORPHA:3208
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness OMIM:609286
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Shoulder girdl... ORPHA:98907
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, EMG: myopa... OMIM:157640
Hyperkalemic Periodic Paralysis
Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Flexion contracture ORPHA:682
Synaptic Congenital Myasthenic Syndromes
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Right ventr... ORPHA:98915
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... OMIM:619461
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Neutral Lipid Storage Myopathy
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness, Myopathy, I... ORPHA:98908
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Myopathy, Skeletal muscle atrophy, Limb-girdle muscle weakness, Limb muscle weakness OMIM:112250
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Myopathy, Skeletal muscle atrophy, Weakness of facial musculature ORPHA:98673
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Shoulder girdle musc... ORPHA:600
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activi... ORPHA:17
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Glycogen Storage Disease Xii
Myopathy OMIM:611881
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Caribbean Parkinsonism
EMG: myopathic abnormalities ORPHA:97355
Cystinosis
Failure to thrive, Myopathy ORPHA:213
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Stormorken Syndrome
Myopathy OMIM:185070
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexi... ORPHA:171430
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Autosomal Dominant Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Failure to thrive, Fac... ORPHA:254892
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy OMIM:115197
Carcinoid Syndrome
Myopathy ORPHA:100093
Combined Oxidative Phosphorylation Deficiency 11
Myopathy OMIM:614922
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysis, Skeletal muscle atrophy, Increas... ORPHA:368
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Primary Lipodystrophy
Myopathy, Skeletal muscle hypertrophy ORPHA:90970
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles OMIM:606070
Glycogen Storage Disease Vii
Increased muscle glycogen content OMIM:232800
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Type 2 muscle fiber atrophy OMIM:159400
Idiopathic Camptocormia
Myositis, EMG: myopathic abnormalities, Proximal spinal muscular atrophy, Abnormal muscle fiber d... ORPHA:1320
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Rhabdomyolysis, Decreased plasma free carnitine, Decreased plasma total carnitine ORPHA:157
Xp21 Deletion Syndrome
Decreased muscle mass, Myopathy, Calf muscle hypertrophy ORPHA:261476
Scleromyxedema
Myopathy, Abnormal skeletal muscle morphology ORPHA:167635
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Myopathy OMIM:261740
Myotonic Dystrophy 2
Oligospermia, Type 2 muscle fiber atrophy OMIM:602668
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Diaphragmatic e... OMIM:616866
Triosephosphate Isomerase Deficiency
Myopathy, Skeletal muscle atrophy OMIM:615512
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Leigh Syndrome
Myopathy, Decreased activity of the pyruvate dehydrogenase complex, Skeletal muscle atrophy, Decr... ORPHA:506
Carey-Fineman-Ziter Syndrome
Facial palsy, Myopathy, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy ORPHA:1358
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Weight loss, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, In... OMIM:164310
Danon Disease
Myocardial necrosis, Generalized amyotrophy, EMG: myopathic abnormalities OMIM:300257
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Weakness of facial musculature, Increased intramyocellular lipid droplets, EMG: myopathic abnorma... ORPHA:502423
Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... ORPHA:565612
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Skeletal myopathy, Left ventricular hypertrophy, Rhabdomyolysis, Lo... ORPHA:746
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contracture, Muscle fiber n... OMIM:618733
Hereditary Xanthinuria
Myopathy ORPHA:3467
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Cachexia, Skeletal muscle atrophy, Contractures of... ORPHA:300605
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter OMIM:607459
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Lethal Congenital Contracture Syndrome 9
Myopathy, Congenital contracture, Abnormality of the diaphragm OMIM:616503
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers OMIM:607426
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Distal arthrogryposis, Myopathy, Diaphragmatic eventration, Failure to thrive in infancy OMIM:618975
Snakebite Envenomation
Muscle fiber necrosis, Rhabdomyolysis ORPHA:449285
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Myopathy, Skeletal muscle atrophy OMIM:614557
Melas
Failure to thrive, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Myopathy ORPHA:550
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Weight loss, Myopathy ORPHA:85450
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Hip contracture, EMG: myopathic abnormalities, Knee flexion contracture, Severe failure... ORPHA:371364
Vici Syndrome
Left ventricular hypertrophy, Myopathy, Failure to thrive OMIM:242840
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... OMIM:619036
Multiple Endocrine Neoplasia, Type Iib
Myopathy, Failure to thrive in infancy OMIM:162300
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Acquired Generalized Lipodystrophy
Myopathy, Calf muscle pseudohypertrophy ORPHA:79086
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Localized Scleroderma
Myopathy, Skeletal muscle atrophy, Flexion contracture ORPHA:90289
Congenital Myasthenic Syndrome
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Muscle fiber atrophy, Distal am... ORPHA:590
Usher Syndrome
Myopathy ORPHA:886
Presynaptic Congenital Myasthenic Syndromes
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Muscle fiber atrophy, Distal am... ORPHA:98914
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Proximal upper limb muscle hypertrophy, Myopathy, Muscle hypertrophy of the lower extremities, Sk... ORPHA:280365
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Acute rhab... ORPHA:423
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Bannayan-Riley-Ruvalcaba Syndrome
Myopathy, Skeletal muscle atrophy, Cachexia ORPHA:109
Overlap Myositis
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... ORPHA:206572
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Weight loss, Increased intramyocellular lipid droplets, Obesity... ORPHA:79102
Native American Myopathy
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... ORPHA:168572
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Myopathy, Arthrogryposis multiplex congenita ORPHA:2953
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Absent muscle fiber merosin, Myositis, Macroglossia, Facial palsy, Congenital muscular dystrophy,... ORPHA:258
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Scleroderma
Myopathy, Facial palsy, Flexion contracture ORPHA:801
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma free carnitine, Increased muscle lipid content, Knee flexion contracture, Decrea... OMIM:608836
Stromme Syndrome
Myopathy OMIM:243605
Schwartz-Jampel Syndrome
Myopathy, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Flexion contrac... ORPHA:800
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Wrist drop, Limb muscle weakness, EMG: myopathic abnormalities, Muscle fib... ORPHA:1900
Cystinosis, Nephropathic
Myopathy, Decreased plasma carnitine, Skeletal muscle atrophy, Failure to thrive in infancy OMIM:219800
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Abnormality of the mitochondrion, Joint contracture of the hand, Camptodactyly OMIM:214110
Wolfram Syndrome
Myopathy ORPHA:3463
Abetalipoproteinemia
Failure to thrive, Distal lower limb muscle weakness, Myopathy ORPHA:14
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Congenital Ptosis
Increased muscle lipid content, Congenital facial diplegia, Congenital fibrosis of extraocular mu... ORPHA:91411
Bannayan-Riley-Ruvalcaba syndrome
Myopathy OMIM:153480
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activity of mitochondrial complex II... OMIM:252010
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Alpha-Mannosidosis, Infantile Form
Macroglossia, Myopathy, Facial hypotonia ORPHA:309282
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Failure to thrive, Facial hypotonia, EMG: myopathic abnormalities, Left ventricular... ORPHA:365
Kyphoscoliotic Ehlers-Danlos Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:536545
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Myopathy OMIM:234200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Myopathy, Hip contracture, Flexion contracture ORPHA:3042
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, EMG: myopathic abnormalities ORPHA:480864
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
Choreoacanthocytosis
Peroneal muscle atrophy, Myopathy, Weight loss, Muscle fiber atrophy, Distal amyotrophy ORPHA:2388
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Ragged-red muscle fibers ORPHA:255210
1P36 Deletion Syndrome
Failure to thrive, Obesity, Myopathy, Camptodactyly of finger ORPHA:1606
Dermatomyositis
Weight loss, Inflammatory myopathy ORPHA:221
Williams Syndrome
Macroglossia, Obesity, Myopathy, Failure to thrive in infancy ORPHA:904
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Decreased body weight, Tendon rupture OMIM:182250
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Proteus Syndrome
Decreased muscle mass, Cachexia, Myofibrillar myopathy ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Klhl31

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Klhl31.

No publications found that use IMPC mice or data for Klhl31.

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MGI Allele Allele Type Produced
Klhl31tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Klhl31tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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