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Gene: Klhl31 MGI:3045305

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

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 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.

Human diseases associated with Klhl31 (0 diseases)
Human diseases predicted to be associated with Klhl31 (485 diseases)

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	Matching phenotypes	Source
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Facial palsy, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased...	OMIM:616209
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Mitochondrial Complex I Deficiency, Nuclear Type 25	Decreased activity of mitochondrial complex I, Myopathy, Failure to thrive, Nemaline bodies	OMIM:618246
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Limb musc...	OMIM:500002
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Increased variability...	OMIM:611705
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy, Decreased activity of mitochondrial respiratory chain	OMIM:613076
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne...	OMIM:181400
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ...	OMIM:620310
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Weakness of facial musculature, Centrally nucleated skeletal muscle fi...	OMIM:618484
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh...	OMIM:300580
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy...	ORPHA:86812
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Fiber type grouping	OMIM:614369
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Failure to thrive, Skeleta...	OMIM:619518
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Mitochondrial Complex I Deficiency, Nuclear Type 21	Decreased activity of mitochondrial complex I, Myopathy, Ragged-red muscle fibers	OMIM:618242
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi...	ORPHA:486815
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Decreased activity of mitochondrial complex I, Myopathy, Decreased activity of mitochondrial comp...	OMIM:255100
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am...	ORPHA:399081
Combined Oxidative Phosphorylation Deficiency 49	Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m...	OMIM:619024
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath...	ORPHA:352470
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal...	ORPHA:59135
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Myopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly	OMIM:610140
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Myopathy, Distal, 3	Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur...	OMIM:610099
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r...	OMIM:255310
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Failure to thrive, Abnormality of the mitochondrion	ORPHA:91130
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an...	ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,...	OMIM:167320
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Leber Hereditary Optic Neuropathy	Myopathy, Mitochondrial respiratory chain defects	ORPHA:104
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga...	OMIM:248800
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, Cryptorchidism, Type 1 musc...	OMIM:619542
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Central Core Disease	Multiple joint contractures, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance, Pel...	ORPHA:597
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:609560
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m...	OMIM:603034
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Increased endomysial conne...	OMIM:602541
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Moderate Multiminicore Disease With Hand Involvement	Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance	ORPHA:178145
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit...	OMIM:500013
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy	OMIM:618323
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ...	ORPHA:401768
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li...	ORPHA:99013
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture...	ORPHA:280333
Mitochondrial Complex I Deficiency, Nuclear Type 15	Decreased activity of mitochondrial complex I, Myopathy, Failure to thrive, Flexion contracture	OMIM:618237
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino...	OMIM:608340
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Combined Oxidative Phosphorylation Deficiency 6	Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV	OMIM:300816
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Myopathy	ORPHA:408
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele...	OMIM:615368
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long...	ORPHA:169186
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat...	OMIM:256030
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ...	OMIM:617258
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers, Decreased activity of mitochondrial complex III	OMIM:615159
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, F...	OMIM:619065
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Mitochondrial Complex I Deficiency, Nuclear Type 14	Decreased activity of mitochondrial complex I, Myopathy	OMIM:618236
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Combined Oxidative Phosphorylation Deficiency 28	Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra...	OMIM:616794
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia	ORPHA:157973
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Abnormal iron deposition in mitochondria, Decreased activity of mitochon...	OMIM:255125
Mitochondrial Complex I Deficiency, Nuclear Type 11	Decreased activity of mitochondrial complex I, Myopathy, Failure to thrive	OMIM:618234
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy...	ORPHA:2596
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Cryptorchidism, Flexion contr...	OMIM:301830
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu...	ORPHA:166002
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T...	OMIM:619574
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle...	OMIM:619903
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased ...	ORPHA:178148
Dpm3-Cdg	Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness	ORPHA:263494
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr...	ORPHA:75840
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te...	OMIM:620389
Myotubular Myopathy With Abnormal Genital Development	Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl...	OMIM:300219
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,...	OMIM:615156
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy, Failure to thrive	ORPHA:26792
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	ORPHA:34515
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Weight loss, ...	OMIM:613662
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f...	OMIM:613818
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Neutral Lipid Storage Disease With Myopathy	Myopathy, Increased muscle lipid content	OMIM:610717
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakn...	ORPHA:352447
Hypophosphatasia, Childhood	Myopathy, Bowing of the legs	OMIM:241510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ...	ORPHA:254886
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m...	OMIM:613561
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ...	ORPHA:272
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co...	OMIM:161800
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Glutamate-Cysteine Ligase Deficiency	Myopathy	ORPHA:33574
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Combined Oxidative Phosphorylation Deficiency 8	Decreased activity of mitochondrial complex I, Increased variability in muscle fiber diameter, Fa...	OMIM:614096
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Decreased activit...	OMIM:615418
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness	OMIM:615980
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98853
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Combined Oxidative Phosphorylation Defect Type 27	Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra...	ORPHA:477774
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Weaknes...	ORPHA:254875
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers...	OMIM:616239
Spinocerebellar Ataxia 28	Ragged-red muscle fibers, Lower limb hypertonia, Abnormal activity of mitochondrial respiratory c...	OMIM:610246
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy	OMIM:616549
Sengers Syndrome	Decreased activity of mitochondrial complex I, Myopathy, Decreased activity of mitochondrial comp...	OMIM:212350
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro...	OMIM:612954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy	OMIM:232400
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Congenital Myopathy 24	Scapular winging, Facial palsy, Talipes equinovarus, Type 1 muscle fiber predominance, Nemaline b...	OMIM:617336
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma...	ORPHA:99939
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy	ORPHA:369840
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:613752
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling	OMIM:615595
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Adrenomyodystrophy	Myopathy, Failure to thrive	ORPHA:977
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	OMIM:300653
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n...	OMIM:615578
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma...	ORPHA:559
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities, Obesity	OMIM:618822
Frontotemporal Dementia With Motor Neuron Disease	Generalized amyotrophy, Abnormal mitochondrial morphology	ORPHA:275872
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Proximal ...	OMIM:615084
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ...	OMIM:619040
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Axial Osteomalacia	Myopathy	OMIM:109130
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, Upper l...	ORPHA:263297
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Slender build...	OMIM:254090
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General...	ORPHA:324604
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Cachexia, Myopathy, Decreased plasma total carnitine, Distal arthrogryposis	ORPHA:42
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Spinocerebellar Ataxia With Epilepsy	Myopathy	ORPHA:254881
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Decreased activity of mitochondrial complex II, Le...	OMIM:252011
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Decreased activity of mitochondrial complex IV, Increased variability in muscle fiber d...	OMIM:604377
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Cryptor...	OMIM:175700
Immunodeficiency 9	Myopathy, Failure to thrive	OMIM:612782
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Failure to thrive, Flexion contracture	OMIM:620240
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber...	OMIM:620080
Barth Syndrome	Talipes equinovarus, Skeletal myopathy, Failure to thrive, Abnormal mitochondrial morphology	OMIM:302060
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Decreased plasma free carnitine, Decreased plasma total carnitine, Rhabdomyolysis, Myopathy	ORPHA:228305
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Acyl-Coa Dehydrogenase 9 Deficiency	Myopathy, Decreased circulating carnitine concentration, Decreased activity of mitochondrial comp...	ORPHA:99901
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Weakness of facial musculature, Failure to thrive, Flexion contracture, Myopathy	OMIM:201470
Immunodeficiency 10	Myopathy	OMIM:612783
Xanthinuria, Type I	Myopathy	OMIM:278300
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Familial Isolated Hypoparathyroidism	Myopathy	ORPHA:2238
Pseudoachondroplasia	Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Irregular carpal bones...	ORPHA:750
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis	ORPHA:713
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy	OMIM:613077
Carnitine Deficiency, Systemic Primary	Myopathy, Failure to thrive, Reduced muscle carnitine level	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 33	Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ...	OMIM:617713
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Distal amyotrophy, Skeletal myopa...	ORPHA:3208
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Chanarin-Dorfman Syndrome	Myopathy	OMIM:275630
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Failure to thrive	ORPHA:71
Muscle-Eye-Brain Disease	Myopathy	ORPHA:588
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Failure to thrive, Rhabdomyolysis, Small for gestational age	OMIM:609015
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Failure...	ORPHA:367
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Leber Optic Atrophy	Myopathy	OMIM:535000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib...	ORPHA:52430
Hyperkalemic Periodic Paralysis	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:682
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy	ORPHA:363400
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes...	ORPHA:98908
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Talipes ...	ORPHA:98915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Abnormal mitochondrial shape, Short femur, Decreased acti...	ORPHA:17
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Gener...	OMIM:600462
Glycogen Storage Disease Xv	Scapular winging, Type 1 muscle fiber predominance	OMIM:613507
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness	OMIM:609286
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature	ORPHA:98673
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities, Overlapping toe	ORPHA:457365
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao...	ORPHA:298
Cystinosis	Myopathy, Failure to thrive	ORPHA:213
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology	OMIM:300438
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities	OMIM:620326
Neutral Lipid Storage Disease With Ichthyosis	Obesity, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid droplets, EM...	ORPHA:98907
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ...	ORPHA:254892
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of...	ORPHA:1358
Carcinoid Syndrome	Myopathy	ORPHA:100093
Mcleod Syndrome	Myopathy, Rhabdomyolysis	OMIM:300842
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Talipes equinovarus, Genu varum	OMIM:619743
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp...	ORPHA:3068
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Cryptorchid...	OMIM:254940
Congenital Myopathy 17	Overlapping fingers, Overlapping toe, Failure to thrive in infancy, Tapered finger, Myopathy, Dis...	OMIM:618975
Hypotonia-Cystinuria Syndrome	Failure to thrive, Ragged-red muscle fibers, Facial palsy	OMIM:606407
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass, Finger clinodactyly	ORPHA:261476
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers	ORPHA:1349
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Combined Oxidative Phosphorylation Deficiency 12	Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m...	OMIM:614924
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Cachexia, Elbow flexion contracture, Small hand, Knee flexion co...	ORPHA:371364
Danon Disease	Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,...	OMIM:300257
Dystonia-Aphonia Syndrome	Macroglossia, Abnormal mitochondrial shape	ORPHA:412217
Carnitine Palmitoyltransferase Ii Deficiency	Decreased plasma free carnitine, Decreased plasma total carnitine, Rhabdomyolysis, Myopathy	ORPHA:157
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities	ORPHA:684
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Decreased activity of mitochondrial respira...	ORPHA:506
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM...	OMIM:618733
Scleromyxedema	Myopathy, Abnormal skeletal muscle morphology	ORPHA:167635
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 11	Myopathy	OMIM:614922
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl...	OMIM:164310
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinus calcaneus, Rhabdomyolysis, Skeletal myopathy, Left ventricu...	ORPHA:746
Sanjad-Sakati Syndrome	Short foot, Cryptorchidism, Small hand, Myopathy	ORPHA:2323
Stormorken Syndrome	Myopathy	OMIM:185070
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Failure to thrive, Myopathy	OMIM:615512
Hereditary Amyloidosis With Primary Renal Involvement	Primary testicular failure, Weight loss, Oligozoospermia, Myopathy, Abnormal testis morphology	ORPHA:85450
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Glycerol Kinase Deficiency	Small for gestational age, Cryptorchidism, Myopathy, Muscular dystrophy	OMIM:307030
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Muscle fiber splitting	OMIM:606408
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo...	ORPHA:300605
Melas	Myopathy, Failure to thrive, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:550
Polymyositis	Weight loss, Abnormal muscle fiber morphology	ORPHA:732
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Talipes equinovarus, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Multiple Endocrine Neoplasia, Type Iib	Myopathy, Failure to thrive in infancy, Proximal femoral epiphysiolysis	OMIM:162300
Localized Scleroderma	Skeletal muscle atrophy, Sclerosis of finger phalanx, Flexion contracture, Myopathy	ORPHA:90289
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Tapered finger, Cryptorchidism, Myopathy, Arthrogryposis multiplex congeni...	ORPHA:2953
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Acroosteolysis of distal phalanges (feet), Proximal upper limb muscle hypertrophy, Osteolytic def...	ORPHA:280365
Usher Syndrome	Myopathy	ORPHA:886
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, EMG: myopathic abnormalities, Triphal...	ORPHA:2549
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Bowing of the long bones, Shoulder flexion contracture,...	ORPHA:800
Acquired Generalized Lipodystrophy	Myopathy, Calf muscle pseudohypertrophy	ORPHA:79086
Cardiomyopathy, Familial Hypertrophic, 4	Myopathy	OMIM:115197
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:98914
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Broad thumb, Myopathy, Cachexia	ORPHA:109
Malignant Hyperthermia Of Anesthesia	Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab...	ORPHA:423
Native American Myopathy	Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Congenital co...	ORPHA:168572
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu...	ORPHA:206572
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Stromme Syndrome	Myopathy, Preaxial polydactyly	OMIM:243605
Kearns-Sayre Syndrome	Ragged-red muscle fibers	OMIM:530000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cryptorchidism, Myopathy, Clinodactyly, Failure to thrive, Broad thumb	OMIM:612541
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling	OMIM:618250
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ...	ORPHA:258
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Elbow flexion contracture, EMG: myopathic abnormalities, Wrist drop, Talip...	ORPHA:1900
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build	OMIM:603041
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula...	ORPHA:79102
Abetalipoproteinemia	Myopathy, Failure to thrive, Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:14
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Vici Syndrome	Left ventricular hypertrophy, Myopathy, Failure to thrive	OMIM:242840
Alpha-Mannosidosis, Infantile Form	Facial hypotonia, Genu valgum, Macroglossia, Myopathy, Cortical thickening of long bone diaphyses...	ORPHA:309282
Wolfram Syndrome	Myopathy	ORPHA:3463
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Failure to thrive, Abnormal mitochondrial shape	ORPHA:543470
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Myopathy	OMIM:261740
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Cystinosis, Nephropathic	Skeletal muscle atrophy, Failure to thrive in infancy, Metaphyseal widening, Genu valgum, Weight ...	OMIM:219800
Kyphoscoliotic Ehlers-Danlos Syndrome	Talipes equinovarus, Skeletal muscle atrophy, Arachnodactyly, Myopathy	ORPHA:536545
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	EMG: myopathic abnormalities, Acute rhabdomyolysis	ORPHA:480864
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass	OMIM:234200
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
Choreoacanthocytosis	Peroneal muscle atrophy, Weight loss, Myopathy, Distal amyotrophy, Muscle fiber atrophy	ORPHA:2388
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
1P36 Deletion Syndrome	Camptodactyly of finger, Cryptorchidism, Obesity, Short foot, Myopathy, Foot polydactyly, Clinoda...	ORPHA:1606
Glycogen Storage Disease Due To Acid Maltase Deficiency	Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Flexion contracture, Macroglos...	ORPHA:365
Dermatomyositis	Inflammatory myopathy, Weight loss	ORPHA:221
Fumarase Deficiency	Failure to thrive, Mitochondrial swelling	OMIM:606812
Proteus Syndrome	Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Testicular neoplasm, Metat...	ORPHA:744
Williams Syndrome	Hallux valgus, Failure to thrive in infancy, Cryptorchidism, Obesity, Genu valgum, Macroglossia, ...	ORPHA:904
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Osteolytic defects of the phalanges of the hand,...	OMIM:182250

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Klhl31^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Klhl31^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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