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Gene: Cfl2 MGI:101763

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cofilin 2, muscle

Synonyms:

N/A

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 Cfl2 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 Cfl2 (2 diseases)
Human diseases predicted to be associated with Cfl2 (375 diseases)

The table below shows human diseases associated to Cfl2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nemaline Myopathy 7		Waddling gait, Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due t...	OMIM:610687
Typical Nemaline Myopathy		Waddling gait, Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fat...	ORPHA:171436

The table below shows human diseases predicted to be associated to Cfl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ...	OMIM:616199
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin...	OMIM:158600
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, D...	OMIM:181400
Nonaka Myopathy	Distal muscle weakness, Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal...	OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima...	OMIM:618655
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, P...	OMIM:500002
Inclusion Body Myositis	Distal muscle weakness, Proximal muscle weakness, Inflammatory myopathy, Dysphagia, Rimmed vacuoles	OMIM:147421
Welander Distal Myopathy	Distal muscle weakness, Distal amyotrophy, Steppage gait, Rimmed vacuoles	OMIM:604454
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re...	ORPHA:266
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m...	ORPHA:611
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista...	ORPHA:178464
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp...	ORPHA:276435
Sandhoff Disease, Adult Form	Dystonia, Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limb...	ORPHA:309169
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping	OMIM:614369
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness	OMIM:616231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal...	OMIM:618848
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne...	ORPHA:34516
Myasthenic Syndrome, Congenital, 17	Muscle weakness, Difficulty walking, Type 1 muscle fiber predominance	OMIM:616304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,...	OMIM:254110
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:620286
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ...	OMIM:617030
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Neck flexor weakness, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak...	OMIM:616209
Myopathy, Myofibrillar, 5	Waddling gait, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Myofibrilla...	OMIM:609524
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Proxi...	OMIM:620389
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal ...	OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Dysphagia, Shoulder ...	OMIM:603511
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Zebra Body Myopathy	Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m...	ORPHA:97240
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc...	OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl...	OMIM:608423
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn...	OMIM:619477
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Short stature, Neck flexor weakness, Ragged-red muscle f...	ORPHA:457050
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally n...	OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Proximal upper limb amyotr...	OMIM:601954
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Overweight, Z-...	OMIM:619178
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f...	ORPHA:598
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ...	OMIM:617069
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Nemaline Myopathy 2	Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont...	OMIM:256030
Myasthenic Syndrome, Congenital, 12	Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro...	OMIM:610542
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ...	OMIM:160500
Oculopharyngodistal Myopathy 2	Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople...	OMIM:618940
Myopathy, Myofibrillar, 3	Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal...	OMIM:609200
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Myopathy, Myofibrillar, 2	Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak...	OMIM:608810
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl...	OMIM:615424
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili...	OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes...	OMIM:608099
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w...	OMIM:609284
Miyoshi Muscular Dystrophy 1	Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we...	OMIM:254130
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal muscle weakness, Short stature, Distal amyotrophy, Type 1 muscle fiber pr...	OMIM:619042
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Proximal muscle weakness, Gowers sign, Unsteady gait, Myopathy, Limb-girdle muscul...	OMIM:612937
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Waddling gait, Impaired vibratory sensation, Somatic sensory dysfunction, Proximal muscle weaknes...	OMIM:616924
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centra...	OMIM:617760
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ...	OMIM:620265
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Waddling gait, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flex...	ORPHA:280333
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ...	ORPHA:178145
Nemaline Myopathy 6	Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Gait disturbance, Limb muscle weakness, ...	OMIM:609273
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m...	OMIM:617070
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl...	OMIM:300717
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facia...	OMIM:609285
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat...	OMIM:618129
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Restlessness, Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Dystonia	OMIM:615159
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In...	OMIM:618654
Oculopharyngodistal Myopathy 4	Distal muscle weakness, Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscl...	OMIM:619790
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra...	OMIM:619733
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Myasthenic Syndrome, Congenital, 13	Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness	OMIM:614750
Nemaline Myopathy 7	Waddling gait, Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due t...	OMIM:610687
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Distal muscle weakness, Facial palsy, Impaired pain sensation, Flexion contr...	OMIM:607684
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, Dystonia,...	OMIM:167320
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas...	OMIM:500009
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc...	ORPHA:424107
Merrf	Myopathy, Ragged-red muscle fibers, Ataxia, Short stature	ORPHA:551
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase...	OMIM:613204
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers, Ataxia, Muscle weakness	OMIM:545000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach...	OMIM:603689
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl...	ORPHA:488650
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Slender build, Proximal muscle w...	OMIM:161800
Myopathy, Distal, 3	Distal muscle weakness, Distal amyotrophy, Steppage gait, Muscular dystrophy, Late-onset proximal...	OMIM:610099
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G...	OMIM:117000
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Ataxia, Respiratory insufficiency due to muscle weakness, Inability to w...	OMIM:618276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ...	OMIM:609283
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy...	OMIM:608340
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak...	OMIM:620386
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O...	OMIM:601462
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Myopathy 3 With Rigid Spine	Poor head control, Failure to thrive, Short stature, Facial palsy, Neck flexor weakness, Centrall...	OMIM:602771
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak...	ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Loss of ambulation, Increa...	OMIM:253601
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ...	ORPHA:2593
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w...	OMIM:616228
Congenital Myopathy 14	Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex...	OMIM:618414
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ...	OMIM:620249
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera...	OMIM:608930
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ...	ORPHA:59135
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Ragged-red muscle fibers, Ophthalmoparesis, Paroxysmal choreoathetosis, Difficulty walkin...	OMIM:500003
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn...	OMIM:603034
Adult-Onset Nemaline Myopathy	Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr...	ORPHA:171442
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K...	OMIM:616313
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals...	OMIM:616852
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac...	ORPHA:270
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proxima...	ORPHA:353327
Congenital Myopathy 10A, Severe Variant	Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari...	OMIM:614399
Rhabdomyolysis, Susceptibility To, 1	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle...	OMIM:620235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Broad-based gait, Progressive external ophthalmoplegia, Ataxia, Ophthalm...	OMIM:616479
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac...	OMIM:300696
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R...	OMIM:255310
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Muscular Dystrophy, Limb-Girdle, Type 1H	Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu...	OMIM:613530
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness...	OMIM:620285
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross...	OMIM:619903
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Myopathy, Distal, Tateyama Type	Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic...	OMIM:614321
Nemaline Myopathy 10	Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir...	OMIM:616165
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Nemaline Myopathy 8	Facial palsy, Flexion contracture, Ophthalmoparesis, Dysphagia, Myofibrillar myopathy, Nemaline b...	OMIM:615348
Muscle Filaminopathy	Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast...	ORPHA:171445
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Calf muscle hypertrophy, Macroglossia,...	OMIM:616052
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Myopathy, Proximal muscle weakness in lower limbs, Gait disturbance, Increased var...	ORPHA:1878
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,...	OMIM:300559
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Broad-based gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor wea...	ORPHA:353
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Respirato...	OMIM:617066
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skelet...	OMIM:255200
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ...	OMIM:300718
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle ...	ORPHA:86812
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weak...	ORPHA:171439
Combined Oxidative Phosphorylation Deficiency 6	Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe...	OMIM:300816
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Limb-girdle muscle weakness, ...	OMIM:613818
Vocal Cord And Pharyngeal Distal Myopathy	Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne...	ORPHA:600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s...	OMIM:608807
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge...	ORPHA:75840
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal ...	ORPHA:254886
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Waddling gait, Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hyp...	ORPHA:34515
Bethlem Myopathy 2	Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ...	OMIM:616471
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive...	OMIM:609452
Myopathy, Centronuclear, 4	Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia...	OMIM:620246
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 f...	OMIM:300580
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Unsteady gait, Neuromuscular dysphagia, Blepharospasm, Falls,...	ORPHA:240094
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Short stature, Increased intramyocellular lipid droplets, D...	OMIM:619065
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Progressive external ophthalmoplegia, Ataxia, Cachexia, Generalized muscle weakness, Ragged-red m...	OMIM:613662
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Impaired temperature sensatio...	OMIM:619574
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu...	OMIM:608931
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu...	OMIM:611615
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoat...	OMIM:617519
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Neck flexor weakness, Chorea, Upper-limb joint contracture, Opisthotonus...	ORPHA:300605
Spastic Paraplegia Type 7	Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ...	ORPHA:99013
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht...	OMIM:605809
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Dysphagia, Proximal muscle weak...	OMIM:613954
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo...	OMIM:605355
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased...	OMIM:607855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ...	OMIM:253700
Coenzyme Q10 Deficiency, Primary, 9	Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predominance, O...	OMIM:619028
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Growth delay, General...	OMIM:613561
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Ragged-red muscle fibers, Growth delay, Myopathy, Difficulty walking	OMIM:618242
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle...	OMIM:618823
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w...	ORPHA:171433
Myasthenic Syndrome, Congenital, 6, Presynaptic	Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn...	OMIM:254210
Myopathy, Tubular Aggregate, 1	Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Proximal muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Dyst...	OMIM:618416
Arthrogryposis Multiplex Congenita 6	Akinesia, Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthro...	OMIM:619334
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Oph...	ORPHA:401768
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ...	OMIM:612999
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Hereditary Continuous Muscle Fiber Activity	Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Ina...	OMIM:609560
Dpm3-Cdg	Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm...	ORPHA:263494
Congenital Myopathy 24	Waddling gait, Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nem...	OMIM:617336
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ...	ORPHA:98905
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Short stature, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapulope...	OMIM:255160
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Broad-based gait, Progressive distal muscular atrophy, Facial palsy, Torticolli...	OMIM:181405
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr...	OMIM:620138
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi...	ORPHA:486815
Amyotrophic Lateral Sclerosis 21	Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea...	OMIM:606070
Spinocerebellar Ataxia 28	Somatic sensory dysfunction, Ragged-red muscle fibers, Limb ataxia, Ophthalmoparesis, Gait ataxia...	OMIM:610246
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s...	OMIM:617072
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Progressive external ophthalmoplegia	ORPHA:480
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, ...	OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc...	OMIM:613157
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Short stature, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, ...	OMIM:252011
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Short stature, Poor head control, Inter...	ORPHA:324604
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb...	OMIM:310440
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth...	OMIM:255320
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Loss of a...	OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li...	OMIM:616812
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Proximal muscle weakness, Inability to walk, Quadriceps muscle weakness, Generalized muscle weakn...	ORPHA:206546
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox...	ORPHA:329478
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu...	ORPHA:1145
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Poor head control, Ankle flexion contracture, Choreoathetosis, Lower limb hypert...	ORPHA:319514
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si...	OMIM:617258
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Craniofacial dystonia, ...	OMIM:620011
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D...	ORPHA:98764
Congenital Myopathy 9A	EMG: myopathic abnormalities, Short stature, Obesity, Akinesia	OMIM:618822
Central Core Disease	Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M...	ORPHA:597
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness in upper limbs, Calf muscle p...	ORPHA:352479
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We...	ORPHA:98913
Cap Myopathy	Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima...	ORPHA:171881
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl...	ORPHA:397744
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short stature, Ataxia, Centrally nucleated skeletal muscle fibers, Progr...	OMIM:248800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Atypical Juvenile Parkinsonism	Resting tremor, Dystonia, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Leg muscle st...	ORPHA:391411
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in...	OMIM:611705
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Muscle weakness, Abnormal muscle fiber protein expression	ORPHA:330054
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles...	ORPHA:206559
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Fa...	ORPHA:596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ...	OMIM:614302
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
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
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diamet...	OMIM:620161
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Gowers sign, Myopathy, Calf muscle hypertrophy, Difficulty walki...	ORPHA:119
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Impaired propr...	OMIM:500013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg...	OMIM:609286
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Muscle weakness	OMIM:616794
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter	ORPHA:238329
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Dysphagia, Increased variability in muscle fiber diameter, Impaired oral bolus...	OMIM:617235
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Blepharospasm, Falls, Gai...	ORPHA:240071
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial conn...	OMIM:602541
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Ophthalmoplegia, Athetosis, Distal amyotrophy, Dysphagia, Loss of ambulation, Muscle weak...	OMIM:271245
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Proximal muscle weakness, R...	OMIM:254090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Resting tre...	OMIM:157640
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Akinesia, Aggressive behavior, Tremor, Dysphagia, Distal sensory i...	OMIM:606693
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop...	OMIM:615959
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int...	ORPHA:681
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Increased variability in muscle fiber diameter, Failure to thrive, Generalized mu...	OMIM:614096
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog...	OMIM:611588
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
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles...	ORPHA:206569
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Upper limb postural tremor, Dysphagia	ORPHA:477774
Oculopharyngodistal Myopathy 1	Distal muscle weakness, Autophagic vacuoles, Ataxia, Facial palsy, Proximal muscle weakness, Exte...	OMIM:164310
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Hypotonia-Cystinuria Syndrome	Facial palsy, Postnatal growth retardation, Ragged-red muscle fibers, Failure to thrive, Polyphag...	OMIM:606407
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac...	ORPHA:98855
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb...	ORPHA:98914
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Poor head control, Failure to thrive	OMIM:613752
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, Ataxia, Increased variability in muscle fiber diameter, Gait ataxia	OMIM:617915
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Growth delay, Viral infection-induced rha...	ORPHA:57
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph...	ORPHA:169189
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Int...	ORPHA:247234
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien...	ORPHA:261
Spinocerebellar Ataxia 21	Ataxia, Postural tremor, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Pr...	OMIM:607454
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Ophthalmoparesis, Gait di...	ORPHA:1349
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Proximal muscle weakness, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscul...	ORPHA:369840
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Typical Nemaline Myopathy	Waddling gait, Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fat...	ORPHA:171436
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber...	OMIM:226670
King-Denborough Syndrome	Short stature, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscl...	OMIM:619542
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Ophthalmoplegia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter	OMIM:125250
Perry Syndrome	Akinesia, Tremor, Weight loss, Inappropriate behavior, Disinhibition, Dystonia, Short stepped shu...	OMIM:168605
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,...	OMIM:310300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Distal muscle weakness, Short stature, Proximal muscle weakness, Fatty replacement...	ORPHA:52430
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Distal muscle weakness, Cachexia, External ophthalmoplegia, Ragged-red mus...	ORPHA:298
Congenital Myopathy 12	Small for gestational age, Akinesia, Respiratory insufficiency due to muscle weakness, Jaw contra...	OMIM:612540
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys...	ORPHA:178148
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Akinesia, Impulsivity, Weight loss, Agitation, Shuffling gait, Dysphagi...	ORPHA:411602
Manganese Poisoning	Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate l...	ORPHA:306682
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Ragged-re...	ORPHA:352447
Hypotonia, Infantile, With Psychomotor Retardation	Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber...	OMIM:616816
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakne...	ORPHA:98915
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ext...	OMIM:620351
Myopathy, Mitochondrial, And Ataxia	Ataxia, Short stature, Tremor, Inability to walk, Limb ataxia, Dysmetria, Growth delay, Distal se...	OMIM:617675
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes...	ORPHA:171430
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven...	OMIM:615418
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized...	OMIM:600462
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra...	OMIM:619461
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia	OMIM:607598
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Short stature, Proximal muscle weakness, Tremor, Gowers sign, Increa...	ORPHA:502423
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Failure to thrive in infancy, External ophthalmoplegia, Flexion contracture, Grow...	OMIM:619026
Optic Atrophy 11	Hyperactivity, Short stature, Ataxia, Gait apraxia, Dysmetria, Athetosis, Facial diplegia, Stereo...	OMIM:617302
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ...	OMIM:620278
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Akinesia, Generalized amyotrophy, Intrauter...	ORPHA:994
3-Methylglutaconic Aciduria, Type V	Diaphragmatic eventration, Ataxia, Postnatal growth retardation, Nonprogressive cerebellar ataxia...	OMIM:610198
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Akinesia, Generalized muscle weakness, Paresthesia, Dysphagia,...	ORPHA:97349
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ophthalmoplegia, Ragged-red muscle fibers	OMIM:540000
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Neutral Lipid Storage Myopathy	Short stature, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of ske...	ORPHA:98908
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Proximal muscle weakness, Impaired distal proprioception, Ragged-re...	ORPHA:70595
Polymyositis	Anorexia, Proximal muscle weakness, Abnormal muscle fiber morphology, Weight loss, Gait disturbance	ORPHA:732
Neurodegeneration With Brain Iron Accumulation 5	Tremor, Dystonia, Akinesia, Aggressive behavior	OMIM:300894
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Hyperactivity, Ataxia, Dystonia, Akinesia, Tremor, Phonic tics, Choreoathe...	OMIM:234200
Mitochondrial Dna Depletion Syndrome 11	Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy...	OMIM:615084
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Progressive muscle weakness, Ragged-red muscle fibers, Dysphagia, Loss of ambulat...	OMIM:607426
Corticobasal Syndrome	Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Gait disturbance, Limb dystonia	ORPHA:454887
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber...	OMIM:620080
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Failure to thrive, Flexion contracture	OMIM:620240
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait	OMIM:619911
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Hypoesthesia, Ragged-red ...	OMIM:603041
Early-Onset Autosomal Dominant Alzheimer Disease	Agitation, Ataxia, Deposits immunoreactive to beta-amyloid protein, Disinhibition	ORPHA:1020
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Intrauterine growth retardation, Joint contracture, Hypoplasia of the musculature, Akinesia	OMIM:225790
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Ophthalmo...	ORPHA:3068
Parkinson Disease 17	Tremor, Resting tremor, Akinesia	OMIM:614203
Gaucher Disease, Perinatal Lethal	Akinesia, Dysphagia, Opisthotonus, Decreased body weight, Neonatal death, Intrauterine growth ret...	OMIM:608013
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Amyoplasia, Flexion contracture, Akinesia	OMIM:253290
Spinocerebellar Ataxia Type 21	Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr...	OMIM:255125
Congenital Fiber-Type Disproportion Myopathy	Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak...	ORPHA:2020
Kearns-Sayre Syndrome	Progressive external ophthalmoplegia, Ataxia, Short stature, Ragged-red muscle fibers, Muscle wea...	OMIM:530000
Myasthenic Syndrome, Congenital, 19	Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ...	OMIM:616720
Mitochondrial Complex I Deficiency, Nuclear Type 28	Poor head control, Akinesia, Choreoathetosis, Truncal ataxia, Failure to thrive	OMIM:618249
Snakebite Envenomation	Rhabdomyolysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Muscle fi...	ORPHA:449285
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera...	OMIM:613327
Overlap Myositis	Proximal muscle weakness in upper limbs, Proximal muscle weakness, Perifascicular muscle fiber at...	ORPHA:206572
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology	OMIM:175700
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Myopathy, Weakness o...	OMIM:616239
Glycogen Storage Disease Xv	Scapular winging, Muscle weakness, Type 1 muscle fiber predominance	OMIM:613507
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga...	ORPHA:99845
Aceruloplasminemia	Torticollis, Ataxia, Akinesia, Tremor, Chorea, Limb ataxia, Gait ataxia, Blepharospasm, Dystonia,...	ORPHA:48818
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness	ORPHA:228302
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Dysp...	ORPHA:258
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Ataxia, Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, Ophth...	ORPHA:254892
Danon Disease	Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG...	OMIM:300257
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele...	OMIM:615368
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis, Dysphagia	OMIM:609454
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Compulsive behaviors, Limb dystonia, Muscle fiber atrophy, Loss ...	ORPHA:2388
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Dystonia, Ataxia, Small for gestational age, Choreoathetosis, Growth del...	OMIM:615471
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Obesity, Ophthalmoparesis, Episodic fla...	ORPHA:79102
Supranuclear Palsy, Progressive, 1	Limb dystonia, Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Dysphagia	OMIM:601104
Native American Myopathy	Skeletal muscle atrophy, Short stature, Inability to walk, Abnormality of skeletal muscle fiber s...	ORPHA:168572
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Growth delay, Failure to thrive, Small for gestational age, Akinesia	OMIM:619147
Combined Oxidative Phosphorylation Deficiency 12	Poor head control, Ophthalmoplegia, Ragged-red muscle fibers, Dystonia, Failure to thrive	OMIM:614924
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting	OMIM:606408
Neuromuscular Oculoauditory Syndrome	Poor head control, Unsteady gait, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber...	OMIM:618733
Arthrogryposis Multiplex Congenita 5	Dystonia, Akinesia, Flexion contracture, Elbow flexion contracture, Hand tremor, Growth delay, Ca...	OMIM:618947
Mitochondrial Dna-Associated Leigh Syndrome	Dystonia, Ataxia, Chorea, Ragged-red muscle fibers, Ophthalmoparesis, Gait ataxia, Dysphagia, Fai...	ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Poor head control, Failure to thrive	OMIM:615595
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Myasthenia, Limb-Girdle, Autoimmune	Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy	OMIM:159400
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Aggressive behavior, Unsteady gait, Flexion contracture, Ragged-red musc...	ORPHA:17
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness	OMIM:232800
Myotonic Dystrophy 2	Neck flexor weakness, Proximal muscle weakness, Generalized amyotrophy, Weakness of facial muscul...	OMIM:602668
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Flexion contracture, Head-bangi...	ORPHA:86309
Glycogen Storage Disease Xii	Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle ...	OMIM:611881
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired vibratory sensation, Decreased muscle mass, Generalized muscle weakness, Elbow flexion c...	ORPHA:1900
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial ...	OMIM:619424
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc...	OMIM:616503
Idiopathic Camptocormia	Myositis, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle, Abnormal ...	ORPHA:1320
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Akinesia, Limb dystonia	OMIM:616840
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Melas	Progressive external ophthalmoplegia, Short stature, Ataxia, Ragged-red muscle fibers, Myopathy, ...	ORPHA:550
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Poor head control, Ataxia, Ragged-red muscle fibers, Growth delay, Incre...	OMIM:252010
African Trypanosomiasis	Somatic sensory dysfunction, Akinesia, Aggressive behavior, Tremor, Impaired proprioception, Weig...	ORPHA:3385
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Failure to thrive, Muscle weakness	OMIM:124000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Singleton-Merten Syndrome 1	Waddling gait, Short stature, Decreased body weight, Muscle fiber atrophy, Tendon rupture, Muscle...	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 Cfl2

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 Cfl2.

No publications found that use IMPC mice or data for Cfl2.

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
Cfl2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cfl2^{tm1e(EUCOMM)Hmgu}	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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