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Gene: Neb MGI:97292

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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:
nebulin
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 Neb 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 predicted to be associated to Neb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness OMIM:616231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618848
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Ptosis, Type 1 muscle fiber predominance, Muscle weakness OMIM:616304
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D... ORPHA:399096
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Distal muscle weakness OMIM:604454
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Amyotrophic Lateral Sclerosis 27, Juvenile
Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Q... OMIM:620285
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Oculopharyngeal Muscular Dystrophy 1
Progressive ptosis, Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proxima... OMIM:164300
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness, Ptosis, Scoliosis OMIM:614750
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Foot dorsiflexor w... ORPHA:98912
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy, N... OMIM:616209
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Desminopathy
Spinal rigidity, Difficulty walking, Axial muscle weakness, Distal lower limb muscle weakness, We... ORPHA:98909
Congenital Myopathy 10B, Mild Variant
Increased variability in muscle fiber diameter, Difficulty walking, Neck muscle weakness, Limb mu... OMIM:620249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Progressive distal muscle weakness, Multiple joint contrac... ORPHA:98911
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... ORPHA:399086
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Proxi... OMIM:609524
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... OMIM:500002
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Foot dorsiflexo... ORPHA:603
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Distal muscle weakness OMIM:614369
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Progressive distal mu... ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:608807
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Fatigable weakness, Knee flexion contracture, Ptosis, Ataxia OMIM:616330
Oculopharyngodistal Myopathy
Progressive ptosis, Difficulty walking, Loss of ambulation, Tibialis muscle weakness, Abnormality... ORPHA:98897
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Proximal muscle weakness, Peroneal muscle weakness, ... OMIM:611588
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Ptosis, Re... ORPHA:663
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Calf muscle hyper... ORPHA:98896
Bethlem Muscular Dystrophy
Difficulty walking, Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle fl... ORPHA:610
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... OMIM:611615
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Ptosis, Fatigable weakness, Multiple joint contractures OMIM:616227
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... ORPHA:178145
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Fatigable weakness, Ragged-red muscle fibers, Proximal mu... OMIM:610542
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Lumbar... OMIM:610687
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy, Neck flex... OMIM:609273
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:619566
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... OMIM:613530
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Progressive musc... ORPHA:98902
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Tip-toe gait, Shoulder gird... ORPHA:2596
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Skeletal muscle atrophy, Bilateral ptosis, Difficulty walking, Myopathy, Genera... ORPHA:254875
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Limb ataxia... OMIM:248800
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Fatigable weakness, Myopathy, Proximal muscl... ORPHA:424107
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Bilateral ptosis, Generalized muscle weakness, Dis... ORPHA:254361
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Gait disturbance, Joint c... OMIM:611225
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness... OMIM:607684
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... ORPHA:270
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... OMIM:617069
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... ORPHA:169186
Myasthenic Syndrome, Congenital, 8
Ptosis, Weakness of facial musculature, Proximal muscle weakness OMIM:615120
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Intrauterine growth retardati... OMIM:255200
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Neck muscle weakness,... OMIM:160500
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Neck muscle weakness, Limb muscle w... OMIM:609285
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Difficulty walking, Lumbar hyperlordosis, Waddling gait, Ty... ORPHA:353327
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Oculopharyngeal Muscular Dystrophy 2
Proximal muscle weakness in lower limbs, Limb muscle weakness, Axial muscle weakness, Proximal mu... OMIM:620460
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Myasthenic Syndrome, Congenital, 10
Ophthalmoparesis, Distal amyotrophy, Fatigable weakness, Axial muscle weakness, Weakness of facia... OMIM:254300
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Progressive muscle weakn... OMIM:151800
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness OMIM:614807
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Distal mus... OMIM:610099
Myasthenic Syndrome, Congenital, 23, Presynaptic
Neck muscle weakness, Fatigable weakness, Bulbar palsy, Ptosis, Calf muscle hypertrophy, Muscle w... OMIM:618197
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Bulbar palsy, ... OMIM:603511
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respiratory insufficiency due to m... OMIM:300580
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Limb muscle weakness, Fatigable we... OMIM:603034
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... OMIM:609284
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Foot dorsiflexor weakness, Proximal muscle weakness, Lower limb amyotrophy, R... OMIM:617087
Multifocal Motor Neuropathy
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Weakness o... ORPHA:641
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Neonatal death, Generalized mus... OMIM:616165
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... OMIM:616052
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Proximal muscle weakness, Proximal amyotrophy, Gait disturbance, Hyperlordosis, Sho... OMIM:617404
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness... OMIM:256030
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ophthalmoparesis, Arthrogryposis multiplex congenita, Neck muscle weakness, Limb muscle weakness,... OMIM:608930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... OMIM:617070
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... OMIM:619790
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progressive external op... OMIM:609286
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Difficulty walking, Distal lower limb amyotrophy, Claw hand de... OMIM:605285
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Mitochondrial Myopathy, Infantile, Transient
Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied mus... OMIM:500009
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Congenital fibrosis of extraocular muscles, Congenital bilateral ptosis, R... OMIM:609384
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Multiple joint contractures, Myopathy, Progressive external ophthalmoplegia, ... ORPHA:352470
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Loss of ambulation, Proxima... OMIM:608627
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
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
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Merrf
Short stature, Ragged-red muscle fibers, Myopathy ORPHA:551
Pure Mitochondrial Myopathy
Quadriceps muscle weakness, Bilateral ptosis, Shoulder girdle muscle weakness, Lumbar hyperlordos... ORPHA:254854
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Ragged-red muscle fibers, Distichiasis, Progressive muscle weakn... OMIM:600462
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Ptosis, Fatty replace... ORPHA:171706
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Myopathy OMIM:545000
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... ORPHA:98905
Parastremmatic Dwarfism
Severe short stature, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ophthalmoparesis, Falls, Shoulder girdle muscle weakness, Myopathy, Progressive external ophthalm... OMIM:615156
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle weakness, Respiratory insufficiency due... OMIM:300816
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... OMIM:607855
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Inability to walk, Lumbar hyperlordosis, A... ORPHA:206546
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized muscle weakness ORPHA:238329
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... ORPHA:263494
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Diaphragmatic weakness, ... OMIM:614399
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Abnormality of the musculature of the upper limbs, Fatigable weakness of... ORPHA:98913
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Ptosis, Gait disturbance, Leg muscle stiffness OMIM:108600
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Proximal muscle weakness... OMIM:255310
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Gait disturbance, Ataxia, Distal muscle weakness, Scoliosis, Kyphosis ORPHA:101078
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171439
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Muscular Dystrophy, Congenital, With Or Without Seizures
Proximal muscle weakness, Loss of ambulation, Progressive muscle weakness, Hypoglycosylation of a... OMIM:620166
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Increased variability in muscle fiber diameter, Gait ataxia, Ataxia OMIM:617915
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... ORPHA:119
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of ... OMIM:613818
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... OMIM:157640
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Ataxia-Telangiectasia-Like Disorder 2
Absent pubertal growth spurt, Congenital diaphragmatic hernia, Conjunctival telangiectasia, Progr... OMIM:615919
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, Ataxia OMIM:619065
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Weakness of facial musculature, Proximal muscle weakness, Ptosis, Ataxi... OMIM:618637
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Myopathy, Short neck, Spinal rigidity, Facial dip... ORPHA:171436
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ophthalmoparesis, Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Bilatera... OMIM:616479
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:616668
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Poor head control, Flexion contracture, Scoliosis, Kyphosis, Sp... OMIM:618323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Difficulty walking, Generalized muscle weakness, Proximal muscle weakness, Proximal amyotrophy, S... OMIM:606612
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Bilateral ptosis, Fatigable weakness, Ptosis, Gait disturbance, Hyperlo... OMIM:614198
Nemaline Myopathy 8
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Musc... OMIM:615348
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... OMIM:619903
Congenital Myopathy 24
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Gowers sign, Facial palsy, M... OMIM:617336
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Progressive distal mu... ORPHA:397744
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia ORPHA:972
Hypokalemic Periodic Paralysis
Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellular lipid droplets, Abno... ORPHA:681
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Proximal muscle weaknes... OMIM:605588
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Neck muscle weakness, Fatigable weakness, Generalized muscle weakness, Ophthalmoplegia, Ptosis, G... OMIM:616325
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Arts Syndrome
Progressive muscle weakness, Growth delay, Ataxia OMIM:301835
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Falls, Generalized muscle weakness, Ptosis, Gowers sign, Arthrogryposis multiplex congenita OMIM:616326
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Fatigable weakness of skeletal muscles, Neck muscle weakness, Weakness of facial musculature, Oph... OMIM:616324
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Bilateral ptosis, Downslanted palp... OMIM:619542
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ophthalmoplegia, Ptosis, Muscle weakness, Abnormal mitochondria in muscle tissue OMIM:258470
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Downslanted palpebral fissures, Diff... OMIM:611890
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Type 1 muscle fiber predominance, Limb muscle... OMIM:161800
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Gait disturbance, Ataxia, Scoliosis, ... ORPHA:101075
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:401768
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Gait imbalance, Proximal muscle weakness, Diaphragmatic weakness, Kyphos... ORPHA:101081
Combined Oxidative Phosphorylation Deficiency 8
Generalized muscle weakness, Increased variability in muscle fiber diameter, Neonatal death OMIM:614096
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Foot dorsiflexor weakness, Loss of ambulation, Ophthalmoplegia, Ataxia, Short stature, Unsteady g... OMIM:618124
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Lower limb muscle weakness, Bilateral ptosis, Progressive external ophthalmoplegia, Limb-girdle m... ORPHA:329314
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Ophthal... ORPHA:597
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Broad-based... OMIM:181405
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Bilateral ptosis, Gait imbalance, Limb muscle weakness, Limb dysmetria, ... ORPHA:329336
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Ab... ORPHA:178148
Cdkl5-Deficiency Disorder
Difficulty walking, Gait disturbance, Poor head control, Scoliosis, Growth delay, Kyphosis, Synop... ORPHA:505652
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... OMIM:608931
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... OMIM:605809
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Difficulty walking, Myopathy, Truncal ataxia, Progressive proxima... ORPHA:369847
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walki... OMIM:607155
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Athetosis, Ragged-red muscle fibers, Ataxia OMIM:615159
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Poor head control, Ptosis, Loss of ambulation, Generalized muscle weakness OMIM:616321
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Neonatal death OMIM:300076
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Shor... OMIM:226670
Infantile Refsum Disease
Short stature, Progressive muscle weakness, Ataxia, Facial palsy ORPHA:772
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Increased variability in muscle fiber diameter OMIM:613752
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Neck muscle weakness, Fatigable weakness, Ophthalmoplegia, Ptosis, Facial palsy, Muscle weakness OMIM:616322
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Fatiguable weakness o... ORPHA:171881
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Respiratory insu... OMIM:254210
2p15-16.1 microdeletion syndrome
Telecanthus, Ptosis, Camptodactyly of finger, Downslanted palpebral fissures DECIPHER:70
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Muscle weakness, Respiratory insuffici... OMIM:618276
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Proximal muscle weakness, Weakness o... OMIM:615959
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... OMIM:620011
Kondoh Syndrome
Interphalangeal joint contracture of finger, Intrauterine growth retardation, Thick eyebrow, Knee... OMIM:606242
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Ataxia, Scoliosis, Kyphosis, Muscle weakness, Skeletal muscle hypertrophy ORPHA:99014
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Gait disturbance, Myopathy, Ataxia OMIM:125250
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy, Muscle weakness OMIM:254100
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Ataxia, Short stature, Scoliosis, Kyph... OMIM:616756
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Respiratory insufficiency due to... OMIM:609560
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Proximal muscle weakness, External ophthalmoplegia, Fatigable weakness, Congenital ptosis OMIM:254190
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Ptosis, Gait disturbance, Kyphosis ORPHA:1875
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral ptosis, Downslanted palpebral fissures, Inability to walk, Hypomimic face, Ataxia, Scol... OMIM:619701
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Calf mu... OMIM:609308
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Myasthenic Syndrome, Congenital, 20, Presynaptic
Ophthalmoparesis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Neck muscle weakne... OMIM:617143
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Generalized amyotrophy, Neck muscle ... OMIM:617258
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Intermittent episodes of respiratory insufficiency due ... ORPHA:324604
Congenital Myopathy 22A, Classic
External ophthalmoplegia, Proximal muscle weakness in lower limbs, Increased variability in muscl... OMIM:620351
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Arthrogryposis multipl... OMIM:619334
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa... ORPHA:370980
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Beaking... ORPHA:40
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... ORPHA:171433
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Ptosis, Upslanted palpebral fissure OMIM:620086
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Ragged-red muscle fibers, Myopathy OMIM:618242
Ptosis-Vocal Cord Paralysis Syndrome
Severe short stature, Ptosis ORPHA:2997
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Fazio-Londe Disease
Diaphragmatic weakness, Bulbar palsy, Ptosis, Facial diplegia OMIM:211500
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Childhood-... OMIM:271630
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Camptodactyly, Kyphosis OMIM:618453
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Gowers sign, Facial palsy, ... OMIM:602541
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Myasthenic Syndrome, Congenital, 22
Proximal muscle weakness, Ptosis, Short stature, Muscle weakness, Waddling gait OMIM:616224
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Ptosis, Camptodactyly, Short stature, Scoliosis OMIM:618436
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Limb muscle weakness, Progressive external ophthalmoplegia, Progressive muscle weakness, Ptosis, ... OMIM:610131
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Ataxia, Scoliosis, Kyphosis, Muscle weakness, Synophrys ORPHA:85317
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Loss of ambulation, Decreased level of coenzyme Q10 in skeletal muscle,... OMIM:607426
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Proximal muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature OMIM:618416
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... ORPHA:329478
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Epicanthus, Kyphosis ORPHA:85288
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Difficulty walking, Limb ataxia, Spastic ataxia, Ptosis, Abnormal eyelid mo... ORPHA:251282
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Myopathy, Distichiasis, Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Ophthalmoplegia, Ptosis, Increased intr... OMIM:252011
Spinocerebellar Ataxia 28
Ophthalmoparesis, Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Ptosis, Lower limb hypertonia OMIM:610246
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... OMIM:254090
Congenital Myopathy 19
Skeletal muscle atrophy, Congenital contracture, Ptosis, Gait disturbance, Respiratory insufficie... OMIM:618578
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... OMIM:617519
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Facial palsy OMIM:617732
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Bilateral ptosis, Difficulty walking, Delayed menarche, Inability to wal... ORPHA:330050
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Multiple joint contractures, Myopathy, Spinal muscular atroph... OMIM:301830
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Myopathy, Progressive muscle weakness, Respiratory insufficiency due to ... OMIM:615512
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Bilateral ptosis, Muscle... OMIM:258450
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Kyphosis, Ptosis, Scoliosis, Congenital foot contractures ORPHA:3454
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Shoulder flexion contracture, Elbow flexion contracture, Telecanthus, Kn... OMIM:277720
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, Difficulty walking, Myopathy, Ptosis, Increased intramyocellular... ORPHA:98907
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Growth delay, Muscle ... OMIM:613561
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Ptosis, Delayed puberty, Blep... OMIM:301900
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Kyphosis, Facial myokymia, Ataxia OMIM:620007
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Gowers sign, Shoulder girdle muscle weakness, Generalized limb muscle atrophy, N... ORPHA:98908
Arthrogryposis, Distal, Type 7
Short stature, Distal arthrogryposis, Ptosis, Arthrogryposis multiplex congenita OMIM:158300
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Arthrogryposis multiplex congenita, Downslanted p... OMIM:615834
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... OMIM:616720
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... ORPHA:600
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Ragged-red ... ORPHA:254886
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Epicanthus, Scoliosis, Kyphosis OMIM:300434
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Progressive external ophthalmo... OMIM:615084
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Broad-based gait, Difficulty walking, Progressive truncal ataxia, Multiple joint contractures, Dy... ORPHA:363429
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness, Generalized musc... OMIM:613662
Richieri Costa-Da Silva Syndrome
Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Decreas... ORPHA:3101
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Inability to walk, Thick eyebrow, Diastasis recti, Upslanted palpebral f... ORPHA:488632
Striatonigral Degeneration, Infantile, Mitochondrial
Ophthalmoparesis, Ragged-red muscle fibers OMIM:500003
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial m... ORPHA:352447
Spinocerebellar Ataxia, Autosomal Recessive 8
Limb ataxia, Gait ataxia, Dysmetria, Ptosis, Scoliosis, Kyphosis OMIM:610743
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy, Myopathy, Proximal musc... ORPHA:369840
Dk1-Cdg
Short stature, Progressive muscle weakness ORPHA:91131
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Dysmetria, Proximal muscle weakness, Progressive external ophthalmoplegia, Ptos... OMIM:618098
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Ptosis, Ataxia, Poor head control, Hypomimic face, Dysdiadochokinesis OMIM:618049
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Inability to walk, Ptosis, Short stature, Growth delay ORPHA:438178
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Skeletal muscle atrophy, Neck muscle weakness, Gait imbalance, Hand mus... OMIM:211530
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Postnatal growth retardation, Rhabdomyolysis, Progressive muscle weaknes... ORPHA:79240
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Lethargy, Internally nucleated skeletal muscle fibers ORPHA:324581
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis, Short... OMIM:162100
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Myopathy, Neonatal death, Flexion contracture, Kyphosis OMIM:618237
Masa Syndrome
Short stature, Shuffling gait, Kyphosis, Hyperlordosis OMIM:303350
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Ophthalmoplegia, Ptosis, Short stature, EM... ORPHA:457365
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Gait ataxia, Limb dysmetria, Dysmetria, Ptosis, Dysdiadochokinesis ORPHA:324262
Coenzyme Q10 Deficiency, Primary, 4
Proximal muscle weakness, Decreased level of coenzyme Q10 in skeletal muscle, Ptosis, Increased i... OMIM:612016
Congenital Myasthenic Syndrome
Difficulty walking, Neck muscle weakness, Intermittent episodes of respiratory insufficiency due ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Difficulty walking, Neck muscle weakness, Intermittent episodes of respiratory insufficiency due ... ORPHA:98914
Sandhoff Disease
Kyphosis, Muscle weakness, Ataxia ORPHA:796
Synaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Bilateral ptosis, Hand muscle weakness, Neck muscle we... ORPHA:98915
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Axial muscle weakness... ORPHA:206569
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Ptosis, Scoliosis, Choreoathetosis, Aplasia of the left hemidiap... OMIM:618238
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ophthalmoparesis, Oculomotor nerve palsy, Ophthalmoplegia, Ptosis, Facial palsy ORPHA:2743
Wernicke-Korsakoff Syndrome
Ophthalmoplegia, Ptosis, Ataxia OMIM:277730
Microcephaly 16, Primary, Autosomal Recessive
Short stature, Telecanthus, Ptosis, Knee flexion contracture OMIM:616681
Mcdonough Syndrome
Short palpebral fissure, Ptosis, Aplasia/Hypoplasia of the abdominal wall musculature, Short stat... ORPHA:2471
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Gait disturbance, Scoliosis, Kyphosis, Synophrys ORPHA:2429
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ... OMIM:617468
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Intrauterine growth retardation, Dysmetria, Abnormality of the cervical spine, Finger joi... ORPHA:48431
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Intrauterine growth retardation, Type 1 muscle fiber predominance, Hip... ORPHA:319514
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolac... ORPHA:2220
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Progres... ORPHA:368
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Progressive external ophthalmoplegia, Ptosis, Ataxia, Muscle weak... OMIM:615917
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Neonatal death, Short neck, Camptodactyly, Arthrogryposis multiplex cong... OMIM:618393
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Rhabdo... OMIM:255125
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Scoliosis, Kyphosis, Downslanted palpebral fissures ORPHA:276630
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Epicanthus, Ophthalmoplegia, Ptosis, Distal arthrogryposis, ... OMIM:108145
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Short neck, Blepharophimosis, Narrow palpebral fi... OMIM:255800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Ptosis, Hypoglycosylation of alpha-dystrogly... OMIM:615351
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Growth delay, External ophth... OMIM:619026
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Short palpebral fissure, Joint contracture of the hand, Congenital contrac... ORPHA:352490
Trismus-Pseudocamptodactyly Syndrome
Short stature, Ptosis ORPHA:3377
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Flexion contracture, Difficulty walking, Inability to walk, Fatigable... ORPHA:365
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Kyphosis, Waddling gait OMIM:618392
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Ptosis, Ataxia, Short stature, Dysdiadochokinesis OMIM:614831
Spastic Ataxia 5, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness, Dysmetria, Spastic ataxia, Ptosis, Increased intra... OMIM:614487
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Ptosis, Thoracolumbar sco... OMIM:616549
Spinocerebellar Ataxia, Autosomal Recessive 31
External ophthalmoplegia, Lumbar kyphoscoliosis, Ptosis, Ataxia, Growth delay, Choreoathetosis, M... OMIM:619422
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Ptosis, Horizontal eyebrow OMIM:619311
Arthrogryposis, Distal, Type 3
Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly of finger, Lumbar hyperl... OMIM:114300
Proximal Xq28 Duplication Syndrome
Epicanthus, Ptosis, Gait disturbance, Blepharophimosis, Short stature ORPHA:1762
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... ORPHA:169189
Spinocerebellar Ataxia With Epilepsy
Ophthalmoparesis, Gait ataxia, Dysmetria, Myopathy, Ptosis, Dysdiadochokinesis, Progressive cereb... ORPHA:254881
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Downslanted palpebral fissures, Postnatal growth retardation, Long eyelash... OMIM:300590
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Ptosis, Blepharophimosis, Abnormal lacrimal duct morphology, Synophrys ORPHA:126
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging OMIM:613507
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Tendon rupture, Fiber... OMIM:620080
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Ataxia, Anterior beaking of lumbar vertebrae, Scoliosis, ... OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Unsteady gait, Scoliosis, Kyphosis, Synophrys OMIM:300861
Combined Oxidative Phosphorylation Defect Type 7
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weaknes... ORPHA:254930
Spastic Paraplegia 46, Autosomal Recessive
Lower limb muscle weakness, Limb muscle weakness, Limb dysmetria, Upper limb dysmetria, Spastic g... OMIM:614409
Hemifacial Atrophy, Progressive
Horner syndrome, Kyphosis, Blepharophimosis, Ataxia OMIM:141300
Spastic Paraplegia Type 7
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Segawa Syndrome, Autosomal Recessive
Ptosis, Gait ataxia OMIM:605407
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Distal amyotrophy, Lower limb muscle weakness, Dysmetria, Ptosis, Ataxia, Distal muscle weakness,... ORPHA:313772
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Lower limb muscle weakness, Generalized limb muscle atrophy, Facial diplegia, Foot dorsiflexor we... ORPHA:521411
Zimmermann-Laband Syndrome 2
Long eyelashes, Thick eyebrow, Short neck, Short stature, Macroglossia, Kyphosis, Synophrys OMIM:616455
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... ORPHA:99956
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... OMIM:619574
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Ptosis, Delayed puberty, Short stature, Scoliosis ORPHA:1825
Spinocerebellar Ataxia Type 28
Ophthalmoparesis, Ptosis, Gait ataxia, Limb ataxia ORPHA:101109
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Short stature, Flexion contracture, Kyphosis, Muscle weakness ORPHA:87876
Adult Intestinal Botulism
Diaphragmatic paralysis, Ptosis, Muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:178487
Congenital Myopathy 13
Short palpebral fissure, Skeletal muscle atrophy, Downslanted palpebral fissures, Telecanthus, Ky... OMIM:255995
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Restrictive external ophthalmoplegi... OMIM:135700
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Zimmermann-Laband Syndrome 3
Long eyelashes, Thick eyebrow, Flexion contracture, Kyphosis, Synophrys OMIM:618658
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Kyphosis, Upper limb hypertonia, Lower limb hypertonia OMIM:614898
Kleefstra Syndrome 2
Thick eyebrow, Scoliosis, Kyphosis, Growth delay OMIM:617768
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Trisomy 5P
Short stature, Ptosis, Scoliosis ORPHA:1742
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... OMIM:615418
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Short stature, Epicanthus, Ptosis ORPHA:1373
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Skeletal muscle atrophy, Loss of ambulation, Progressive muscle weakness, Ataxi... OMIM:256810
Microphthalmia, Syndromic 13
Short stature, Ptosis, Kyphoscoliosis OMIM:300915
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... OMIM:617675
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Delayed puberty, Increased sarcoplasmic gly... ORPHA:264580
Optic Atrophy 11
Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Gait apraxia, Ataxia,... OMIM:617302
Coffin-Siris Syndrome 8
Ptosis, Long eyelashes, Thick eyebrow, Scoliosis OMIM:618362
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Gait ataxia, Ptosis, Torticollis, Hypomimic face OMIM:619862
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal upper limb muscle weakness, Interosseus muscle atrophy, Distal lower limb amyotrophy, Dist... OMIM:500013
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ophthalmoparesis, Ragged-red muscle fibers, Muscle weakness ORPHA:1349
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Joint contracture of the hand, Camptodactyly of finger, Congenital fibrosis of extraocular muscle... OMIM:600638
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
External ophthalmoplegia, Ptosis, Scoliosis, Torticollis OMIM:618155
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Thick eyebrow, Weak extraocular muscles, Ptosis, Blepharophimosis, Short stature, Frontalis muscl... OMIM:210745
Intellectual Developmental Disorder, Autosomal Dominant 23
Downslanted palpebral fissures, Upslanted palpebral fissure, Ptosis, Hyperlordosis, Scoliosis, Ky... OMIM:615761
Weiss-Kruszka Syndrome
Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures ORPHA:502430
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture... OMIM:259450
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Severe short stature, Hip contracture, Knee flexion contracture, Thoracolumbar sco... OMIM:313420
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Downslanted palpebral fissures, Skeletal muscle hypertrophy, Diffi... OMIM:300280
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Hip contracture, Weakness of facial musculature, Short neck, Ptosis, Facial pa... OMIM:301041
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Limb muscle weakness, Bulbar palsy, Ptosis, Ataxia, Facial palsy, Muscle... ORPHA:97229
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exter... OMIM:607459
Wieacker-Wolff Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Upslanted palpebral fissure, Congenital fo... OMIM:314580
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Leg muscle stiffness, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Progressive gai... ORPHA:284289
Myasthenic Syndrome, Congenital, 24, Presynaptic
Knee flexion contracture, Ophthalmoplegia, Distal arthrogryposis, Ptosis, Camptodactyly, Muscle w... OMIM:618198
Ck Syndrome
Upslanted palpebral fissure, Almond-shaped palpebral fissure, Epicanthus, Hyperlordosis, Scoliosi... OMIM:300831
Hengel-Maroofian-Schols Syndrome
Foot joint contracture, Inability to walk, Thick eyebrow, Gait imbalance, Epicanthus, Ptosis, Sho... OMIM:619641
Houge-Janssens Syndrome 1
Downslanted palpebral fissures, Intrauterine growth retardation, Gait ataxia, Congenital muscular... OMIM:616355
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Growth delay, Weakness of facial musculature, Pro... ORPHA:502423
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Leg muscle stiffness, Generalized limb muscle atrophy, Difficulty walking, Loss of ambulation, Sp... ORPHA:137898
Ophthalmoplegia Totalis With Ptosis And Miosis
Ophthalmoplegia, Ptosis OMIM:258400
Distal Duplication 15Q
Downslanted palpebral fissures, Camptodactyly of finger, Intrauterine growth retardation, Congeni... ORPHA:1707
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Facial palsy, Ragged-red muscle fibers, Muscle weakness OMIM:606407
Native American Myopathy
Progressive congenital scoliosis, Skeletal muscle atrophy, Congenital contracture, Bilateral ptos... ORPHA:168572
Retinal Dystrophy With Leukodystrophy
Falls, Bilateral ptosis, Dysmetria, Proximal muscle weakness, Gowers sign, Waddling gait OMIM:618863
Autosomal Recessive Ataxia, Beauce Type
Ophthalmoparesis, Skeletal muscle atrophy, Lower limb muscle weakness, Dysmetria, Ptosis, Gait di... ORPHA:88644
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Kyphosis, Abnormal form of ... ORPHA:1354
Glycogen Storage Disease Vii