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Gene: Cfl2 MGI:101763

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nemaline Myopathy 7
Gait disturbance, Shoulder girdle muscle weakness, Minicore myopathy, Neck muscle weakness, Gower... OMIM:610687
Typical Nemaline Myopathy
Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Gait dis... ORPHA:171436

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyglucosan Body Myopathy 2
Shoulder girdle muscle weakness, Difficulty walking, Hand muscle weakness, Pelvic girdle amyotrop... OMIM:616199
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Somatic sensory dysfunction, Spinal muscular atrophy, Pr... OMIM:158600
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal weakness, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of fa... OMIM:181400
Nonaka Myopathy
Gait disturbance, Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalit... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Gait disturbance, Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Proxi... OMIM:618655
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Weakness of orbicularis oculi muscle, Difficulty walking, Ataxia, Neck muscl... OMIM:500002
Inclusion Body Myositis
Proximal muscle weakness, Dysphagia, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Welander Distal Myopathy
Distal amyotrophy, Steppage gait, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Shoulder girdle muscle weakness, Autophagic vacuoles, Reduced maximal inspirat... ORPHA:266
Inclusion Body Myositis
Skeletal muscle atrophy, Proximal muscle weakness, Abnormal muscle fiber morphology, Quadriceps m... ORPHA:611
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive proximal muscle weakness, Autophagic vacuoles, Facial diplegia, Difficulty walking, R... ORPHA:399058
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Hereditary Myopathy With Early Respiratory Failure
Gait disturbance, Neck flexor weakness, Falls, Muscle fiber splitting, Type 1 muscle fiber predom... ORPHA:178464
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Gait disturbance, Inability to walk, Intrinsic hand musc... ORPHA:276435
Myopathy, Distal, With Rimmed Vacuoles
Steppage gait, Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial pa... OMIM:617158
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Fiber type grouping, Distal amyotrophy, Distal muscle weakness, Tremor OMIM:614369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Proximal muscle weakness, Fatty replacement of sk... OMIM:618848
Distal Myopathy With Anterior Tibial Onset
Somatic sensory dysfunction, Progressive proximal muscle weakness, Intrinsic hand muscle atrophy,... ORPHA:178400
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Focal dystonia, Dysphagia, Gait at... ORPHA:309169
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle ... ORPHA:34516
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance, Difficulty walking, Muscle weakness OMIM:616304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Paresthesia, Proximal amyotrophy, Shoulder girdle muscle weakness, Neck flexor weakness, Shoulder... OMIM:254110
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Neck flexor weakness, Short stature, Facial palsy, Ragge... OMIM:616209
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmat... OMIM:609524
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Difficulty walking, Myopathy, Steppage gait, EMG: myopathic abnorm... ORPHA:603
Congenital Myopathy 6 With Ophthalmoplegia
Myopathy, Neck muscle weakness, Type 1 muscle fiber predominance, Proximal muscle weakness, Scapu... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Shoulder girdle muscle weakness, Muscle fiber splitting, Gowers sign, Muscular dyst... OMIM:603511
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Neck muscle weakness, Gowers sign, Myof... ORPHA:97240
Nemaline Myopathy 2
Bulbar palsy, Inability to walk, Slender build, Late-onset distal muscle weakness, Steppage gait,... OMIM:256030
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Neck flexor weakness, Muscular dystrophy... OMIM:601846
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facial musculature, Proximal m... OMIM:619477
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, Respiratory insufficien... OMIM:608423
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Neck flexor weakness, Distal lower limb muscle weakness,... ORPHA:457050
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Hand tremor, Type 1 musc... OMIM:271150
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapuloperoneal weakness, Shoulder girdle muscle weakness, Difficulty walking, Falls, Myopathy, T... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Difficulty walking, Distal... OMIM:601954
Myofibrillar Myopathy 11
Overweight, Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, Gowers sign, EMG: m... OMIM:619178
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... OMIM:620068
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... OMIM:609115
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Respiratory insufficiency d... ORPHA:598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Pr... OMIM:617069
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Neck muscle weakness, Gowers sign, Ophthalmoparesis, Proximal muscle weaknes... OMIM:610542
Myopathy, Distal, 1
Tibialis anterior muscle atrophy, Gait disturbance, Distal lower limb muscle weakness, Neck muscl... OMIM:160500
Myopathy, Myofibrillar, 3
Distal amyotrophy, Myofibrillar myopathy, Proximal muscle weakness, Achilles tendon contracture, ... OMIM:609200
Oculopharyngodistal Myopathy 2
Bulbar palsy, Weakness of facial musculature, EMG: myopathic abnormalities, External ophthalmople... OMIM:618940
Tibial Muscular Dystrophy
Ankle weakness, Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Difficulty walk... ORPHA:609
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Neck muscle weakne... OMIM:608810
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Abdominal wall muscle weakness, Proximal muscle weakness in lower limbs, Myopathy, Loss of ambula... OMIM:615424
Finnish Upper Limb-Onset Distal Myopathy
Distal sensory impairment, Progressive proximal muscle weakness, Difficulty walking, Intrinsic ha... ORPHA:399086
Oculopharyngodistal Myopathy 3
Ataxia, Neck muscle weakness, Distal amyotrophy, Weakness of facial musculature, Dysphagia, Tremo... OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Unsteady gait, Gowers sign, EMG: myopathic abnormalities, Proximal muscle weakness, Scapular wing... OMIM:608099
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Tip-toe gait, Distal muscle we... OMIM:254130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Unsteady gait, Myopathy, Gowers sign, Proximal muscle weakness, Muscle weakness, Limb-girdle musc... OMIM:612937
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Facial diplegia, Distal lower limb muscle weakness, Shoulder girdle... OMIM:609284
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Distal sensory impairment, Somatic sensory dysfunction, Upper limb amyotro... OMIM:616924
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Unsteady gait, Gowers sign, Limb-girdle muscular dystrop... ORPHA:280333
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Short stature, D... OMIM:619042
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Calf muscle hypertrophy, Type 1 muscle fiber predominance, Skeletal muscl... OMIM:617760
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy, Distal upper limb ... ORPHA:178145
Nemaline Myopathy 6
Gait disturbance, Neck flexor weakness, Myopathy, Skeletal muscle atrophy, Nemaline bodies, Limb ... OMIM:609273
Congenital Myopathy 14
Axial muscle weakness, Neck muscle weakness, Type 1 muscle fiber predominance, Weakness of facial... OMIM:618414
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Inability to walk, Restlessness, Ataxia, Athetosis, Ragged-red muscle fibers OMIM:615159
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Proximal muscle we... OMIM:617070
Congenital Myopathy 23
Facial diplegia, Difficulty walking, Neck muscle weakness, Type 1 muscle fiber predominance, Gowe... OMIM:609285
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Poor head control, Respiratory insuffici... OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Abdominal wall muscle weakness, Proximal amyotrophy, Gait disturbance, Muscle fiber splitting, My... OMIM:618129
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Respiratory insuffici... OMIM:301075
Congenital Myopathy 8
Weak extraocular muscles, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscl... OMIM:618654
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Weakness of facial musculature, Postural tremor, EMG: myopathic abnormalitie... OMIM:619790
Inclusion Body Myopathy And Brain White Matter Abnormalities
Abdominal wall muscle weakness, Proximal muscle weakness in lower limbs, Fiber type grouping, Wea... OMIM:619733
Distal Nebulin Myopathy
Slender build, Neck flexor weakness, Sternocleidomastoid amyotrophy, Progressive proximal muscle ... ORPHA:399103
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Nemaline Myopathy 7
Gait disturbance, Shoulder girdle muscle weakness, Minicore myopathy, Neck muscle weakness, Gower... OMIM:610687
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired pain sensation, Distal sensory impairment, Gait disturbance, Distal lower limb muscle we... OMIM:607684
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Shoulder girdle muscle weakness, Progressive proximal muscle weakness, Myopathy... OMIM:167320
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Ataxia, Myopathy OMIM:545000
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Gowers sign, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscle w... OMIM:613204
Merrf
Ragged-red muscle fibers, Short stature, Ataxia, Myopathy ORPHA:551
Congenital Myopathy With Myasthenic-Like Onset
Rhabdomyolysis, Minicore myopathy, Gait disturbance, Myopathy, Type 1 muscle fiber predominance, ... ORPHA:424107
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Shoulder girdle muscle weakness, Difficulty walking, Muscle fiber splitti... OMIM:603689
Myopathy, Distal, 3
Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Distal muscle... OMIM:610099
Distal Myopathy, Tateyama Type
Distal sensory impairment, Intrinsic hand muscle atrophy, Neck muscle weakness, EMG: myopathic ab... ORPHA:488650
Congenital Myopathy 2A, Typical, Autosomal Dominant
Bulbar palsy, Slender build, Neck flexor weakness, Late-onset distal muscle weakness, Type 1 musc... OMIM:161800
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... OMIM:117000
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Neck muscle weakness, Respiratory insufficiency due to muscle weakness, Increased m... OMIM:500009
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Ataxia, Type 1 muscle fiber predominance, Respiratory insufficiency due to mus... OMIM:618276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, EMG: myopathic abnormalities, Facial palsy, Generalized mus... OMIM:609283
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal sensory impairment, Fiber type grouping, Lower limb muscle weakness, Steppage gait, Type 1... OMIM:608340
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Loss of ambulation, Skeletal muscle atrophy, EMG: myo... OMIM:253601
Distal Myotilinopathy
Progressive proximal muscle weakness, Abnormal muscle fiber myotilin, Difficulty walking, Loss of... ORPHA:98911
Congenital Myopathy 3 With Rigid Spine
Poor head control, Minicore myopathy, Axial muscle weakness, Neck flexor weakness, Decreased body... OMIM:602771
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Diaphragmatic weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness... OMIM:601462
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Muscle fiber tubular inclusions, EMG: myopathic abn... ORPHA:2593
Myasthenic Syndrome, Congenital, 14
Gowers sign, Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contr... OMIM:616228
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Neck muscle weakness, Gowers sign, Weakness of facial musculature, Respiratory insu... OMIM:608930
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... ORPHA:59135
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Difficulty walking, Myopathy, Lower limb muscle weakness, Type 1 muscle fib... ORPHA:171442
Myasthenic Syndrome, Congenital, 5
Myopathy, Decreased muscle mass, Type 1 muscle fiber predominance, Respiratory insufficiency due ... OMIM:603034
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Poor head control, Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexi... OMIM:616313
Myopathy, Scapulohumeroperoneal
Progressive muscle weakness, Neck flexor weakness, Wrist drop, Skeletal muscle atrophy, Nemaline ... OMIM:616852
Congenital Myasthenic Syndromes With Glycosylation Defect
Poor head control, Difficulty walking, Myopathy, Gowers sign, Type 1 muscle fiber predominance, K... ORPHA:353327
Oculopharyngeal Muscular Dystrophy
Myopathy, Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Ophthalmop... ORPHA:270
Congenital Myopathy 10A, Severe Variant
Diaphragmatic weakness, Camptodactyly of finger, Poor head control, Diaphragmatic paralysis, EMG:... OMIM:614399
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Gait disturbance, Unsteady gait, Ataxia, Difficulty walking, Lower limb muscle weakness, Progress... OMIM:616479
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapuloperoneal weakness, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypert... OMIM:300696
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Failure... OMIM:255310
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Proximal muscle weakness, Muscle weakness, Ce... OMIM:613530
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle atrophy... OMIM:619903
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Neck muscle weakness,... OMIM:619566
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscl... OMIM:614321
Nemaline Myopathy 10
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Nemaline... OMIM:616165
Bethlem Myopathy
Camptodactyly of finger, Reduced muscle collagen VI, Progressive proximal muscle weakness, Achill... ORPHA:610
Nemaline Myopathy 8
Myofibrillar myopathy, Nemaline bodies, Ophthalmoparesis, Dysphagia, Facial palsy, Muscle weaknes... OMIM:615348
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Lower limb muscle weakness, Loss of ambulation, Hypoglycosylation of alpha-dystrogl... OMIM:616052
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Waddling gait, Increased var... ORPHA:1878
Glycogen Storage Disease Ixd
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen... OMIM:300559
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers, Muscle weakness OMIM:159050
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Neck flexor weakness, Gowers sign, Tip-toe gait, EMG: myopathic abnormalities, Righ... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... OMIM:300816
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Respiratory insufficiency due to muscle ... OMIM:300718
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Inability to walk, Neck muscle weakness, Muscular dystrophy, Respiratory insufficiency due to mus... OMIM:617066
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Left ventricular hypertrophy, Myopathy, Type 1 muscle fiber predominance, Tri... ORPHA:86812
Myopathy, Centronuclear, 2
Axial muscle weakness, Gowers sign, Respiratory insufficiency due to muscle weakness, Intrauterin... OMIM:255200
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Slender build, Facial diplegia, Difficulty walking, Myopathy,... ORPHA:171439
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Unsteady gait, Difficulty walking, Gowers sign, Muscular dystrophy, Hypoglycosylation of alpha-dy... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Proximal muscle weakne... OMIM:608807
Congenital Muscular Dystrophy, Ullrich Type
Diaphragmatic weakness, Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abno... ORPHA:75840
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Bulbar palsy, Distal sensory impairment, Ankle weakness, Sho... ORPHA:600
Tibial Muscular Dystrophy, Tardive
Steppage gait, Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Autosomal Recessive Progressive External Ophthalmoplegia
Distal sensory impairment, Paresthesia, Ataxia, Myopathy, Hand muscle weakness, Muscle fiber atro... ORPHA:254886
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... ORPHA:34515
Bethlem Myopathy 2
Myopathy, Proximal muscle weakness, Scapular winging, Muscle weakness, Increased variability in m... OMIM:616471
Myopathy, Myofibrillar, 4
Progressive muscle weakness, Autophagic vacuoles, Muscle fiber splitting, Progressive proximal mu... OMIM:609452
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Short stat... OMIM:300580
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Failure to thrive in infancy, Short stature, Increased variability in muscle fiber diamet... OMIM:619065
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased endomysial connective tissue, Centrally nucleated... OMIM:620246
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Intrinsic hand muscle atrophy, Impaired tandem gait, Impaired distal vib... OMIM:619574
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Progressive external ophthalmoplegia, Cachexia, Muscle weakness, Generaliz... OMIM:613662
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Proximal muscle weakness, Increased variability in muscle f... OMIM:611615
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Gowers sign, Skeletal mu... OMIM:608931
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Unsteady gait, Falls, Distal lower limb muscle weakness, Short stepped shuffling gait, Blepharosp... ORPHA:240094
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Distal amyotrophy, Dysphagia, Facial palsy, Type 2 muscle fiber atrophy, Type ... OMIM:617519
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Cachexia, Muscle weakness, Dystonia, Ataxia, Head titubation, Chorea, Distal m... ORPHA:300605
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Myopathy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Dysph... OMIM:605809
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Lower limb muscle weakness, Attention deficit hyperactivity disorder... ORPHA:99013
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Difficulty walking, Lower limb muscle weakness, Type 1 m... OMIM:613954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Gowers sign, Type 1 muscle fiber predominance, Muscular dystrophy, Loss o... OMIM:253700
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Muscle weakness, Congenital muscular dystrophy,... OMIM:607855
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Proximal amyotrophy, Progressive muscle weakness, Myopathy, Type 1 muscle fiber predominance, Nem... OMIM:605355
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impaired tandem gait, Tremor, Type 2 muscle fiber predominance, Impulsivity, Dysmetria OMIM:619028
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Failure to thrive, Dysphagia, Muscle weakness, ... OMIM:613561
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Amish Nemaline Myopathy
Proximal amyotrophy, Progressive muscle weakness, Type 1 muscle fiber predominance, Respiratory i... ORPHA:98902
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Dysphagia, Type... OMIM:254210
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Myopathy, Ataxia, Growth delay, Ragged-red muscle fibers OMIM:618242
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Paroxysmal choreoathetosis, Chorea, Ophthalmoparesis, Lingual dystonia, Ragge... OMIM:500003
Intermediate Nemaline Myopathy
Facial diplegia, Difficulty walking, Type 1 muscle fiber predominance, Skeletal muscle atrophy, E... ORPHA:171433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Neck flexor weakness, Gowers sign, Proximal muscle weakn... OMIM:618138
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Dystonia, Ataxia, Weakness of facial musculature, Proximal muscle weakness, Chore... OMIM:618416
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, External ophthalmoplegia, Proxim... OMIM:160565
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Beevor's sign, Distal lower limb muscle weakness, Hand muscle weakness, Steppage gait, Increased ... ORPHA:437572
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Neonatal death, Increased variability in muscle fiber diameter, Akinesia, Arthro... OMIM:619334
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Proximal muscle weakness, Fatty replacement ... OMIM:618823
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Proximal Myopathy With Extrapyramidal Signs
Difficulty walking, Ataxia, Central core regions in muscle fibers, Proximal muscle weakness, Chor... ORPHA:401768
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Steppage gait, Respiratory insufficiency due to muscle weakness, Dystonia, Weakness ... OMIM:258450
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Proximal muscle weakness, Scapular winging, Ce... OMIM:612999
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Facial diplegia, Gowers sign, Respiratory insufficiency due to muscle weakness... OMIM:609560
Dpm3-Cdg
Muscular dystrophy, Muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Calf muscle ... ORPHA:263494
Congenital Multicore Myopathy With External Ophthalmoplegia
Type 1 muscle fiber predominance, Muscle weakness, Axial muscle weakness, Tibialis anterior muscl... ORPHA:98905
Congenital Myopathy 24
Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, Facial palsy, M... OMIM:617336
Scapuloperoneal Spinal Muscular Atrophy
Diaphragmatic weakness, Distal sensory impairment, Torticollis, Peroneal muscle atrophy, Muscle f... OMIM:181405
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Scapuloperoneal weakness, Proximal amyotrophy, Type 1 muscle fiber p... OMIM:255160
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Progressive proximal muscle weakness, Sk... OMIM:620138
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Poor head control, Minicore myopathy, Overweight, Neck muscle weakness, Respirat... ORPHA:486815
Amyotrophic Lateral Sclerosis 21
Bulbar palsy, Distal sensory impairment, Shoulder girdle muscle weakness, Distal lower limb muscl... OMIM:606070
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia ORPHA:480
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Muscular dystrophy, Skeletal muscle hypertrophy, Proximal muscle weakness, Increased... OMIM:613157
Spinocerebellar Ataxia 28
Limb ataxia, Somatic sensory dysfunction, Ophthalmoparesis, Gait ataxia, Lower limb hypertonia, R... OMIM:610246
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Gowers sign, Weakness of facial musculature, Flexion contracture of fi... OMIM:618484
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Dystonia, Ataxia, Left ventricular noncompaction, Short s... OMIM:252011
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Poor head control, Abs... ORPHA:324604
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, External ophthal... OMIM:255320
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Gowers sign, Skeletal muscle atrophy, Proximal... OMIM:310440
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, ... ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Muscular dystrophy, Loss of ambulation, Skeletal muscle atrophy, Proximal mus... OMIM:616812
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Loss of ambulation, Short stature, Failure to thrive, Rimmed vacuole... OMIM:619518
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness, Difficulty walking OMIM:619024
Myopathy, Myofibrillar, 7
Difficulty walking, Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Should... OMIM:617114
Infantile-Onset X-Linked Spinal Muscular Atrophy
Spinal muscular atrophy, Weakness of facial musculature, Inflammatory myopathy, Knee flexion cont... ORPHA:1145
Myopathy, Myofibrillar, 8
Neck muscle weakness, Joint contracture of the 5th finger, Gowers sign, Central core regions in m... OMIM:617258
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Hypoesthesia, Sensory ataxia, Muscle weakness, Impaired distal tactile sensation, Broad-based gai... OMIM:607459
Postsynaptic Congenital Myasthenic Syndromes
Ankle weakness, Fatigable weakness of respiratory muscles, Shoulder girdle muscle weakness, Neck ... ORPHA:98913
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Fiber type grouping, Plantar flexion contracture, Wrist drop, Distal arthrogryposis, Arthrogrypos... OMIM:620011
Combined Oxidative Phosphorylation Defect Type 13
Limb dystonia, Poor head control, Type 1 muscle fiber predominance, Intrauterine growth retardati... ORPHA:319514
Central Core Disease
Myopathy, Type 1 muscle fiber predominance, Central core regions in muscle fibers, Respiratory in... ORPHA:597
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Proximal muscle weakness in lower limbs, Loss of ambulation, Hypoglycosylation of a... ORPHA:352479
Cap Myopathy
Lower limb amyotrophy, Poor head control, Fatiguable weakness of proximal limb muscles, Lower lim... ORPHA:171881
Marinesco-Sjogren Syndrome
Limb ataxia, Progressive muscle weakness, Ataxia, Myopathy, Skeletal muscle atrophy, Short statur... OMIM:248800
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Proximal muscle weakness, Fat... ORPHA:397744
Congenital Myopathy 9A
Akinesia, EMG: myopathic abnormalities, Short stature, Obesity OMIM:618822
Atypical Juvenile Parkinsonism
Leg muscle stiffness, Dystonia, Inability to walk, Hypomimic face, Short stepped shuffling gait, ... ORPHA:391411
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Facial diplegia, Difficulty walking, Intrinsic... ORPHA:329478
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... OMIM:611705
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Muscle weakness ORPHA:330054
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Inability to walk, Difficulty walki... ORPHA:206559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hype... OMIM:609308
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Neck muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Proximal ... OMIM:614302
X-Linked Centronuclear Myopathy
Inability to walk, Weakness of facial musculature, Necklace skeletal muscle fibers, Fatigable wea... ORPHA:596
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Progressive proximal muscle weakness, Progressive externa... ORPHA:663
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Muscle weakness, Centrally nucleated ske... OMIM:615422
Congenital Myopathy 15
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... OMIM:620161
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Myopathy, Gowers sign, Waddling gait, Pelvic girdle muscle weakness, Increase... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers OMIM:616794
Myoclonus, Intractable, Neonatal
Impaired oral bolus formation, Chorea, Dysphagia, Athetosis, Increased variability in muscle fibe... OMIM:617235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Progressive muscle weakness, Progressive external ophthalmoplegia, EMG: myopath... OMIM:609286
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Fiber type grouping, Difficulty walking, Distal lower limb muscle w... OMIM:500013
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Gowers sign, Muscular dystrophy, Facial palsy, Muscle weakness, Increased endomysial co... OMIM:602541
Classic Progressive Supranuclear Palsy Syndrome
Falls, Blepharospasm, Axial dystonia, Tremor, Neuromuscular dysphagia, Gait imbalance, Impulsivit... ORPHA:240071
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Fiber type grouping, Ataxia, Distal amyotrophy, Loss of ambulation, Athetosis, Dysphagia, Muscle ... OMIM:271245
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Hand tremor, Progressive muscle weakness, Impaired distal vibration sensation, Ne... OMIM:157640
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Myopathy, Increased muscle glycogen content, Muscle weakness, Increased muscle lipi... ORPHA:254864
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Slender build, Type 1 muscle fiber predominance, Respira... OMIM:254090
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Episodic flaccid weakness, Abnormal muscle fiber morph... ORPHA:681
Combined Oxidative Phosphorylation Deficiency 8
Generalized muscle weakness, Failure to thrive, Neonatal death, Increased variability in muscle f... OMIM:614096
Immune-Mediated Necrotizing Myopathy
Fatiguable weakness of proximal limb muscles, Proximal muscle weakness in lower limbs, Myopathy, ... ORPHA:206569
Myopathy, Centronuclear, 5
Weakness of facial musculature, Proximal muscle weakness, Muscle weakness, Centrally nucleated sk... OMIM:615959
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Progressive muscle weakness, Gowers sign, Muscular dystrophy, Peroneal muscle weakness, Skeletal ... OMIM:611588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Combined Oxidative Phosphorylation Defect Type 27
Dysphagia, Upper limb postural tremor, Ragged-red muscle fibers ORPHA:477774
Autosomal Dominant Cerebellar Ataxia
Torticollis, Gait disturbance, Progressive cerebellar ataxia, Hand tremor, Somatic sensory dysfun... ORPHA:99
Autosomal Recessive Centronuclear Myopathy
Progressive muscle weakness, Facial diplegia, Left ventricular hypertrophy, Gowers sign, Type 1 m... ORPHA:169186
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Facial palsy, Muscle weakness, Postnatal growth retardation, Ragge... OMIM:606407
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Difficulty walking, Ataxia, Distal amyotrophy, Respiratory insufficiency due... OMIM:164310
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... ORPHA:98855
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skeletal muscle atrophy, Dysphagia, ... OMIM:616867
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Kufor-Rakeb Syndrome
Leg muscle stiffness, Torticollis, Gait disturbance, Distal sensory impairment, Ataxia, Dysphagia... OMIM:606693
Congenital Myasthenic Syndrome
Bulbar palsy, Poor head control, Distal lower limb muscle weakness, Ophthalmoplegia, Ataxia, Neck... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Bulbar palsy, Poor head control, Distal lower limb muscle weakness, Ophthalmoplegia, Ataxia, Neck... ORPHA:98914
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Inability to walk, Ataxia, Increased variability in muscle fiber diameter OMIM:617915
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Decreased muscle mass, S... ORPHA:57
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Failure to thrive, Increased variability in muscle fiber diameter OMIM:613752
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Difficulty walking, Type 1 muscle fiber predominance, Re... ORPHA:169189
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Ataxia, Hypomimic face, Dysdiadochokinesis, Dysphagia, Gait ata... ORPHA:247234
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... ORPHA:261
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Myopathy, Muscular dystrophy, Muscle fiber atrophy, Proximal muscle weakness,... ORPHA:369840
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Gait disturbance, Ataxia, Progressive external ophthalmoplegia, Ophthalmoparesis, Muscle weakness... ORPHA:1349
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Tip-toe gait, Pr... ORPHA:536516
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Short stature, Increased variability in muscle fiber ... OMIM:226670
Typical Nemaline Myopathy
Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Gait dis... ORPHA:171436
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... OMIM:619542
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Myopathy, Increased variability in muscle fiber diameter, Ophthalmoplegia OMIM:125250
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Los... OMIM:310300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Short stature, EMG: myopathic abnormalities, Fatty replacemen... ORPHA:52430
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Decreased muscle mass, Cachexia, External ophthalmoplegia, Ophthalmoparesis, Dysphag... ORPHA:298
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Minicore myopathy, Increased endomysial connective tissue, Fl... ORPHA:178148
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Tremor, Gait ataxia, Akinesia, Tr... ORPHA:98764
Congenital Myopathy 12
Camptodactyly, Small for gestational age, Respiratory insufficiency due to muscle weakness, Muscl... OMIM:612540
Spinocerebellar Ataxia 21
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Postural tremor, Gait ataxia, Intention tremo... OMIM:607454
Hereditary Late-Onset Parkinson Disease
Dystonia, Agitation, Hypomimic face, Dysphagia, Weight loss, Resting tremor, Akinesia, Shuffling ... ORPHA:411602
Creatine Phosphokinase, Elevated Serum
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... OMIM:123320
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Progr... ORPHA:352447
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Synaptic Congenital Myasthenic Syndromes
Poor head control, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, Neck muscle ... ORPHA:98915
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle ... ORPHA:171430
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... OMIM:615418
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Progressive muscle weakness, Gowers sign, Scapular winging, Failure to thrive, M... OMIM:600462
Myopathy, Mitochondrial, And Ataxia
Distal sensory impairment, Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Distal amy... OMIM:617675
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Knee flexion co... OMIM:619461
Lethal Congenital Contracture Syndrome 2
Akinesia, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:607598
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Muscle fiber atrophy, Dysphagia, Mus... OMIM:616866
Perry Syndrome
Disinhibition, Short stepped shuffling gait, Tremor, Akinesia, Dystonia, Weight loss OMIM:168605
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Failure to thrive in infancy, External ophthalmoplegia, Growth delay, Increased v... OMIM:619026
3-Methylglutaconic Aciduria, Type V
Nonprogressive cerebellar ataxia, Ataxia, Intrauterine growth retardation, Failure to thrive, Mus... OMIM:610198
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Intrauterine growth retardation, Multiple joint contractures, Akinesia, ... ORPHA:994
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Progressive cerebellar ataxia, Difficulty walking, Gowers sign, Weak... ORPHA:502423
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Optic Atrophy 11
Hyperactivity, Ataxia, Facial diplegia, Fiber type grouping, Attention deficit hyperactivity diso... OMIM:617302
Postencephalitic Parkinsonism
Paresthesia, Oculogyric crisis, Dysphagia, Tremor by anatomical site, Resting tremor, Akinesia, G... ORPHA:97349
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:616470
Neutral Lipid Storage Myopathy
Shoulder girdle muscle weakness, Difficulty walking, Myopathy, Hand muscle weakness, Progressive ... ORPHA:98908
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ophthalmoparesis, Proximal muscle weakness, Gait ataxia, Positive Romberg sign, Impaired vibrator... ORPHA:70595
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Progressive external ophthalmoplegia, Facial palsy, Generalized amyotrophy, ... OMIM:615084
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ataxia, Loss of ambulation, Dysphagia, Tremor, Decreased level of co... OMIM:607426
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Agitation, Ataxia, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Neuronopathy, Distal Hereditary Motor, Type X
Small thenar eminence, Fiber type grouping, Distal lower limb muscle weakness, Scapular winging, ... OMIM:620080
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Flexion contracture, Muscle fiber atrophy, Failure to thrive OMIM:620240
Corticobasal Syndrome
Limb dystonia, Gait disturbance, Somatic sensory dysfunction, Tremor, Akinesia, Dystonia ORPHA:454887
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Resting tremor, Freezing of gait, Akinesia, Dystonia OMIM:619911
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Short stature, Ophthalmoparesis, Abnormal muscle fiber morphology, Facia... ORPHA:3068
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal sensory impairment, Slender build, Hypoesthesia, Distal amyotrophy, Progressive external o... OMIM:603041
Parkinson Disease 17
Akinesia, Resting tremor, Tremor OMIM:614203
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Neonatal death, Dysphagia, Opisthotonus, Akinesia, Arthrogryposi... OMIM:608013
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hypoplasia of the musculature, Intrauterine growth retardation, Joint contracture OMIM:225790
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Flexion contracture, Intrauterine growth retardation, Amyoplasia OMIM:253290
Myopathy With Lactic Acidosis, Hereditary
Rhabdomyolysis, Difficulty walking, Myopathy, Skeletal muscle atrophy, Ophthalmoparesis, Distal m... OMIM:255125
Kearns-Sayre Syndrome
Ataxia, Progressive external ophthalmoplegia, Short stature, Muscle weakness, Ragged-red muscle f... OMIM:530000
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia, Tremor ORPHA:98773
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Proximal muscle weakness, Distal muscle weakness, Facial palsy, ... OMIM:616720
Congenital Fiber-Type Disproportion Myopathy
Poor head control, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness,... ORPHA:2020
Snakebite Envenomation
Rhabdomyolysis, Pseudobulbar paralysis, Neuromuscular dysphagia, Muscle fiber necrosis, Respirato... ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 28
Poor head control, Failure to thrive, Akinesia, Choreoathetosis, Truncal ataxia OMIM:618249
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Proximal muscle weakness, Failure to thrive, Dys... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 24
Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Proximal muscle weakness, Musc... OMIM:616239
Overlap Myositis
Perifascicular muscle fiber atrophy, Difficulty walking, Distal lower limb muscle weakness, Proxi... ORPHA:206572
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Genetic Recurrent Myoglobinuria
Viral infection-induced rhabdomyolysis, Difficulty walking, Neck muscle weakness, Lower limb musc... ORPHA:99845
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging OMIM:613507
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Polymyositis
Abnormal muscle fiber morphology, Gait disturbance, Proximal muscle weakness, Weight loss ORPHA:732
Aceruloplasminemia
Limb ataxia, Torticollis, Ataxia, Blepharospasm, Chorea, Tremor, Gait ataxia, Akinesia, Craniofac... ORPHA:48818
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Inability to walk, Absent muscle fiber merosin, Muscular dystrophy, Intercostal mus... ORPHA:258
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Hyperactivity, Ataxia, Myopathy, Decreased muscle mass, Blepharospasm, Dysphagi... OMIM:234200
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Shoulder girdle muscle weakness, Ataxia, Hypomimic face, Facial diplegia, Left ... ORPHA:254892
Danon Disease
Lower limb amyotrophy, EMG: myopathic abnormalities, Proximal muscle weakness, Distal muscle weak... OMIM:300257
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Congenital contracture, Centrally nucleated skeletal muscle fibers, Small fo... OMIM:615368
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Small for gestational age, Ataxia, Skeletal muscle atrophy, Failure to thrive, Dysphagia, Type 2 ... OMIM:615471
Supranuclear Palsy, Progressive, 2
Falls, Retrocollis, Axial dystonia, Postural tremor, Dysphagia, Gait imbalance, Akinesia OMIM:609454
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Episodic flaccid weakness, Lower limb muscle weakness, Obesity, Ophthalmoparesis,... ORPHA:79102
Native American Myopathy
Camptodactyly, Inability to walk, Muscle fiber atrophy, Skeletal muscle atrophy, Short stature, M... ORPHA:168572
Supranuclear Palsy, Progressive, 1
Limb dystonia, Falls, Retrocollis, Axial dystonia, Dysphagia, Tremor, Gait imbalance, Akinesia OMIM:601104
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Dystonia, Tremor OMIM:300894
Manganese Poisoning
Akinesia, Postural tremor, Gait disturbance, Dystonia ORPHA:306682
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Failure to thrive, Ragged-red muscle fibers, Dystonia, Ophthalmoplegia OMIM:614924
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting OMIM:606408
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Small for gestational age, Failure to thrive, Growth delay OMIM:619147
Neuromuscular Oculoauditory Syndrome
Poor head control, Unsteady gait, Calf muscle hypertrophy, Knee flexion contracture, EMG: myopath... OMIM:618733
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Ophthalmoparesis, Chorea, Dysphagia, Gait ataxia, Muscle weakness, Failure to thrive, Rag... ORPHA:255210
Arthrogryposis Multiplex Congenita 5
Camptodactyly, Arthrogryposis multiplex congenita, Hand tremor, Intrauterine growth retardation, ... OMIM:618947
Combined Oxidative Phosphorylation Deficiency 19
Poor head control, Failure to thrive, Increased variability in muscle fiber diameter OMIM:615595
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy OMIM:300219
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Fatigable weakness, Proximal amyotrophy, Ophthalmoparesis OMIM:159400
Myotonic Dystrophy 2
Neck flexor weakness, Sternocleidomastoid amyotrophy, Weakness of facial musculature, Proximal mu... OMIM:602668
Glycogen Storage Disease Vii
Muscle weakness, Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Glycogen Storage Disease Xii
Delayed puberty, Muscle fiber splitting, Myopathy, Short stature, Muscle weakness, Increased vari... OMIM:611881
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired tandem gait, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, EMG: myopathic abn... ORPHA:1900
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Facial palsy, Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 f... OMIM:619424
Lethal Congenital Contracture Syndrome 9
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... OMIM:616503
Idiopathic Camptocormia
Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Fatty replacement of skeletal musc... ORPHA:1320
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Limb dystonia, Resting tremor OMIM:616840
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy ORPHA:2348
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Dystonia, Unsteady gait, Skeletal muscle atrophy, Failure to thrive, Growth delay... ORPHA:17
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Skeletal muscle hypertr... ORPHA:79083
Melas
Abnormal mitochondria in muscle tissue, Gait disturbance, Ataxia, Myopathy, Progressive external ... ORPHA:550
Mitochondrial Complex I Deficiency, Nuclear Type 1
Poor head control, Ataxia, Skeletal muscle atrophy, Failure to thrive, Muscle weakness, Growth de... OMIM:252010
Choreoacanthocytosis
Limb dystonia, Peroneal muscle atrophy, Falls, Myopathy, Distal amyotrophy, Hyperactivity, Blepha... ORPHA:2388
Dpagt1-Cdg
Camptodactyly, Inability to walk, Ataxia, Failure to thrive, Tremor, Akinesia, Flexion contracture ORPHA:86309
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ataxia, Neonatal death, Failure to thrive, Muscle weakness, Ragged-red muscle fibers OMIM:124000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Increased endomysial connective tissue, Muscular dystrophy OMIM:613154
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the calf musculature, Skeletal myopathy, Rimmed vacuoles, Abnormality of the shoul... ORPHA:565612
African Trypanosomiasis
Paresthesia, Gait disturbance, Somatic sensory dysfunction, Difficulty walking, Impaired proprioc... ORPHA:3385
Singleton-Merten Syndrome 1
Decreased body weight, Muscle fiber atrophy, Short stature, Muscle weakness, Waddling gait, Tendo... 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
Cfl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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