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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
Shoulder girdle muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Muscle fiber pol... OMIM:616199
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Proximal muscle weaknes... OMIM:618655
Myopathy, Distal, With Rimmed Vacuoles
Steppage gait, Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial pa... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:618848
Inclusion Body Myositis
Skeletal muscle atrophy, Proximal muscle weakness, Abnormal muscle fiber morphology, Quadriceps m... ORPHA:611
Nonaka Myopathy
Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal muscle... OMIM:605820
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myasthenic Syndrome, Congenital, 17
Muscle weakness, Type 1 muscle fiber predominance, Difficulty walking, Ptosis OMIM:616304
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Distal Anoctaminopathy
Rhabdomyolysis, Progressive muscle weakness, Progressive proximal muscle weakness, Distal lower l... ORPHA:399096
Myopathy, Scapulohumeroperoneal
Scoliosis, Progressive muscle weakness, Neck flexor weakness, Wrist drop, Skeletal muscle atrophy... OMIM:616852
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Spinal muscular atroph... OMIM:158600
Welander Distal Myopathy
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Scoliosis, Weakness ... ORPHA:59135
Oculopharyngodistal Myopathy 2
Bulbar palsy, Weakness of facial musculature, EMG: myopathic abnormalities, External ophthalmople... OMIM:618940
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Short stature, D... OMIM:619042
Hereditary Myopathy With Early Respiratory Failure
Neck flexor weakness, Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopa... ORPHA:178464
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Proximal muscle weakness, Inflammatory myopathy OMIM:147421
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal weakness, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of fa... OMIM:181400
Myasthenic Syndrome, Congenital, 13
Scoliosis, Muscle fiber tubular inclusions, Proximal muscle weakness, Fatigable weakness, Ptosis OMIM:614750
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facial musculature, Proximal m... OMIM:619477
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Ankle weakness, Leg muscle stiffness, Gait disturbance, Progressive proximal muscle weakness, Fat... ORPHA:98912
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive proximal muscle weakness, Facial diplegia, Neck muscle weakness, Autophagic vacuoles,... ORPHA:399058
Distal Myopathy With Anterior Tibial Onset
Progressive proximal muscle weakness, Intrinsic hand muscle atrophy, Neck muscle weakness, Finger... ORPHA:178400
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Neck flexor weakness, Short stature, Facial palsy, Ragge... OMIM:616209
Oculopharyngeal Muscular Dystrophy
Gait disturbance, Progressive ptosis, Neck muscle weakness, Proximal muscle weakness, Distal musc... OMIM:164300
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Muscle fiber tubular inclusions, EMG: myopathic abn... ORPHA:2593
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Neck flexor weakness, Distal lower limb muscle weakness,... ORPHA:457050
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Shoulder girdle muscle weakness, Autophagic vacuoles, Reduced maximal inspiratory pressure, EMG: ... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... OMIM:601954
Desminopathy
Fatigable weakness of respiratory muscles, Neck flexor weakness, Progressive muscle weakness, Dis... ORPHA:98909
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Gowers sign, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscle w... OMIM:613204
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Respiratory insuffici... OMIM:301075
Distal Myotilinopathy
Progressive proximal muscle weakness, Abnormal muscle fiber myotilin, Difficulty walking, Distal ... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Proximal amyotrophy, Shoulder girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscl... OMIM:254110
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, Muscle fiber i... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... OMIM:609115
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Weakness of orbicularis oculi muscle, Neck muscle weakness, EMG: myopathic a... OMIM:500002
Myopathy, Myofibrillar, 3
Distal amyotrophy, Myofibrillar myopathy, Proximal muscle weakness, Achilles tendon contracture, ... OMIM:609200
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Myofibrillar myopathy, Mus... OMIM:609524
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
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal muscle weakness, Fiber type grouping OMIM:614369
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... OMIM:271150
Inclusion Body Myopathy And Brain White Matter Abnormalities
Abdominal wall muscle weakness, Proximal muscle weakness in lower limbs, Fiber type grouping, Wea... OMIM:619733
Congenital Myopathy 8
Weak extraocular muscles, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscl... OMIM:618654
Finnish Upper Limb-Onset Distal Myopathy
Progressive proximal muscle weakness, Intrinsic hand muscle atrophy, Difficulty walking, Steppage... ORPHA:399086
Myopathy, Myofibrillar, 4
Progressive muscle weakness, Autophagic vacuoles, Muscle fiber splitting, Progressive proximal mu... OMIM:609452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Proximal muscle weakne... OMIM:608807
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Shoulder girdle muscle weakness, Progressive proximal muscle weakness, Myop... OMIM:167320
Distal Nebulin Myopathy
Neck flexor weakness, Sternocleidomastoid amyotrophy, Progressive proximal muscle weakness, Weakn... ORPHA:399103
Congenital Myopathy 14
Axial muscle weakness, Neck muscle weakness, Type 1 muscle fiber predominance, Weakness of facial... OMIM:618414
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
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Progressive muscle weakness, Gowers sign, Muscular dystrophy, Peroneal muscle weakness, Skeletal ... OMIM:611588
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Proximal muscl... OMIM:617760
Myasthenic Syndrome, Congenital, 18
Ataxia, Difficulty walking, Knee flexion contracture, Fatigable weakness, Ptosis OMIM:616330
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Proximal muscle weakness, Increased variability in muscle f... OMIM:611615
Congenital Myopathy 6 With Ophthalmoplegia
Myopathy, Neck muscle weakness, Type 1 muscle fiber predominance, Proximal muscle weakness, Scapu... OMIM:605637
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Neck muscle weakness, Gowers sign, Myof... ORPHA:97240
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Difficulty walking, Fatigable weakness, Ptosis OMIM:616227
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Gowers sign, EMG: myopathic abnormalities, Proximal muscle weakness, Scapular winging, Limb-girdl... OMIM:608099
Bethlem Myopathy
Camptodactyly of finger, Scoliosis, Reduced muscle collagen VI, Progressive proximal muscle weakn... ORPHA:610
Tibial Muscular Dystrophy
Ankle weakness, Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, EMG: ... ORPHA:609
Oculopharyngodistal Myopathy
Progressive proximal muscle weakness, Distal lower limb muscle weakness, Respiratory insufficienc... ORPHA:98897
Duchenne Muscular Dystrophy
Scoliosis, Progressive muscle weakness, Skeletal muscle atrophy, Proximal muscle weakness, Waddli... ORPHA:98896
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy, Distal upper limb ... ORPHA:178145
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers, Muscle weakness OMIM:159050
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Neck flexor weakness, Muscular dystrophy... OMIM:601846
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Waddling gait, Increased var... ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Abdominal wall muscle weakness, Proximal amyotrophy, Muscle fiber splitting, Myopathy, Proximal m... OMIM:618129
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Myopathy, EMG: myopathic abnormalities, Distal upper limb amyotrop... ORPHA:603
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Gowers sign, Proximal muscle weakness, Muscle weakness, Limb-girdle muscular dystrophy,... OMIM:612937
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Neck muscle weakness, Gowers sign, Ophthalmoparesis, Proximal muscle weaknes... OMIM:610542
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, Respiratory insufficien... OMIM:608423
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, EMG: myopathic abnormalities, Facial palsy, Generalized mus... OMIM:609283
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, Gowers sign, EMG: myopathic abn... OMIM:619178
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscl... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... OMIM:253601
Bethlem Myopathy 2
Myopathy, Proximal muscle weakness, Scapular winging, Muscle weakness, Increased variability in m... OMIM:616471
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Shoulder girdle muscle weakness, Muscle fiber splitting, Neck flexor weak... OMIM:603689
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Distal muscle weakness, Deposi... OMIM:254130
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Poor head control, Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexi... OMIM:616313
Nemaline Myopathy 7
Lumbar hyperlordosis, Shoulder girdle muscle weakness, Minicore myopathy, Neck muscle weakness, G... OMIM:610687
Nemaline Myopathy 6
Neck flexor weakness, Myopathy, Skeletal muscle atrophy, Nemaline bodies, Limb muscle weakness OMIM:609273
Myasthenic Syndrome, Congenital, 14
Scoliosis, Gowers sign, Type 1 muscle fiber predominance, Weakness of facial musculature, Knee fl... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Proximal muscle weakness, Muscle weakness, Ce... OMIM:613530
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, Neck muscle weakness, EMG: myopathic abnormalities, Abnormal muscl... ORPHA:488650
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased endomysial connective tissue, Centrally nucleated... OMIM:620246
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... OMIM:620068
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapuloperoneal weakness, Shoulder girdle muscle weakness, Neck flexor weakness, Myopathy, Should... OMIM:608358
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Proximal amyotrophy, Progressive muscle weakness, Myopathy, Type 1 muscle fiber predominance, Nem... OMIM:605355
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weakne... ORPHA:2596
Amish Nemaline Myopathy
Proximal amyotrophy, Progressive muscle weakness, Respiratory insufficiency due to muscle weaknes... ORPHA:98902
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Respiratory insufficiency d... ORPHA:598
Marinesco-Sjogren Syndrome
Scoliosis, Limb ataxia, Progressive muscle weakness, Ataxia, Myopathy, Skeletal muscle atrophy, K... OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Scoliosis, Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Neck muscl... OMIM:619566
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapuloperoneal weakness, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypert... OMIM:300696
Oculopharyngeal Muscular Dystrophy
Myopathy, Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Ophthalmop... ORPHA:270
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Inability to walk, Gait disturbance, Lower limb muscle weakness, Skeletal muscle atrop... OMIM:611225
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Scoliosis, Progressive muscle weakness, Loss of ambulation, Short stature, Rimmed vacuoles, Centr... OMIM:619518
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Scoliosis, Gait disturbance, Distal lower limb muscle weakness, Lower limb muscle weakness, Dista... OMIM:607684
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
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
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Bulbar palsy, Scoliosis, Progressive proximal muscle weakness, Bilateral ptosis, Spinal muscular ... ORPHA:254875
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Pr... OMIM:617069
Congenital Myopathy With Myasthenic-Like Onset
Rhabdomyolysis, Scoliosis, Minicore myopathy, Gait disturbance, Myopathy, Respiratory insufficien... ORPHA:424107
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, External ophthalmoplegia, Proxim... OMIM:160565
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Progressive proximal muscle weakness, Bilateral ptosis, Distal lower limb muscle weakness, Gowers... ORPHA:254361
Myopathy, Distal, 1
Tibialis anterior muscle atrophy, Distal lower limb muscle weakness, Neck muscle weakness, Type 1... OMIM:160500
Autosomal Recessive Centronuclear Myopathy
Progressive muscle weakness, Facial diplegia, Left ventricular hypertrophy, Gowers sign, Type 1 m... ORPHA:169186
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... ORPHA:206549
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Lumbar hyperlordosis, Poor head control, Difficulty walking, Myopathy, Gowers sign, Ty... ORPHA:353327
Myopathy, Centronuclear, 2
Scoliosis, Gowers sign, Respiratory insufficiency due to muscle weakness, Intrauterine growth ret... OMIM:255200
Myasthenic Syndrome, Congenital, 8
Weakness of facial musculature, Proximal muscle weakness, Ptosis OMIM:615120
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Neck muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Proximal ... OMIM:614302
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Proximal muscle weakness, Scapular winging, Ce... OMIM:612999
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Neck muscle weakne... OMIM:608810
Nemaline Myopathy 2
Bulbar palsy, Late-onset distal muscle weakness, Type 1 muscle fiber predominance, Respiratory in... OMIM:256030
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Gowers sign, Limb-girdle muscular dystrophy, Calf muscle... ORPHA:280333
Glycogen Storage Disease Ixd
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen... OMIM:300559
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... OMIM:616924
Congenital Myopathy 23
Facial diplegia, Neck muscle weakness, Gowers sign, Type 1 muscle fiber predominance, Difficulty ... OMIM:609285
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Shoulder girdle muscle weakness, Muscle fiber splitting, Gowers sign, Muscular dyst... OMIM:603511
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Distal muscle weakness, Rimm... OMIM:610099
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Progressive proximal muscle weakness, Progressive externa... ORPHA:663
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Short stat... OMIM:300580
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Facial diplegia, Distal lower limb muscle weakness, Shoulder girdle... OMIM:609284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Neck flexor weakness, Gowers sign, Proximal muscle weakn... OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Muscular dystrophy, Skeletal muscle hypertrophy, Proximal muscle weakness, Increased... OMIM:613157
Myasthenic Syndrome, Congenital, 23, Presynaptic
Bulbar palsy, Neck muscle weakness, Muscle weakness, Calf muscle hypertrophy, Fatigable weakness,... OMIM:618197
Myasthenic Syndrome, Congenital, 10
Bulbar palsy, Proximal amyotrophy, Gowers sign, Respiratory insufficiency due to muscle weakness,... OMIM:254300
Myasthenic Syndrome, Congenital, 5
Scoliosis, Neck muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Type... OMIM:603034
Nemaline Myopathy 10
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Nemaline... OMIM:616165
Oculopharyngodistal Myopathy 3
Neck muscle weakness, Distal amyotrophy, Weakness of facial musculature, Increased endomysial con... OMIM:619473
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Bulbar palsy, Lower limb amyotrophy, Scoliosis, Proximal muscle weakness in lower limbs, Spinal m... OMIM:615290
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
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Weakness of long finger extensor muscles, Progressive muscle ... ORPHA:641
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
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Lower limb amyotrophy, Scoliosis, Difficulty walking, Respiratory insufficiency due to muscle wea... OMIM:617087
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Proximal amyotrophy, Gait disturbance, Gowers sign, Tip-toe gait, Kyphosis, Short stat... OMIM:617404
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, Res... ORPHA:171442
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Distal lower limb muscle ... ORPHA:276435
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, External ophth... OMIM:619790
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Neck muscle weakness, Respiratory insufficiency due to muscle weakness, Increased m... OMIM:500009
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Proximal muscle we... OMIM:617070
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Muscular dystrophy, Respiratory insufficiency due to muscle weakness, Incre... OMIM:617066
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Scoliosis, Neck muscle weakness, Gowers sign, Respiratory insufficiency due to musc... OMIM:608930
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Steppage gait, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... OMIM:614065
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Claw hand deformity, Scoliosis, Difficulty walking, Distal lower li... OMIM:605285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Progressive muscle weakness, Progressive external ophthalmoplegia, EMG: myopath... OMIM:609286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Gowers sign, Type 1 muscle fiber predominance, Muscular dystrophy, Skelet... OMIM:253700
Congenital Myopathy 3 With Rigid Spine
Poor head control, Minicore myopathy, Axial muscle weakness, Neck flexor weakness, Type 1 muscle ... OMIM:602771
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Lower limb muscle weakness, Hypoglycosylation of alpha-dystroglycan, Scapular wingi... OMIM:616052
Neuronopathy, Distal Hereditary Motor, Type Viii
Distal lower limb amyotrophy, Scoliosis, Nonprogressive muscular atrophy, Spinal muscular atrophy... OMIM:600175
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Congenital bilateral ptosis, Kyphosis, Highly arched ... OMIM:609384
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Gowers sign, Short st... ORPHA:171706
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Myopathy OMIM:545000
Merrf
Short stature, Ragged-red muscle fibers, Myopathy ORPHA:551
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Amyotrophic Lateral Sclerosis 8
Proximal amyotrophy, Progressive muscle weakness, Distal amyotrophy, Skeletal muscle atrophy, Los... OMIM:608627
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
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Muscle weakness, Congenital muscular dystrophy,... OMIM:607855
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Proximal muscle weakness, Fatty replacement ... OMIM:618823
Pure Mitochondrial Myopathy
Rhabdomyolysis, Scoliosis, Lumbar hyperlordosis, Shoulder girdle muscle weakness, Bilateral ptosi... ORPHA:254854
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gait disturbance, Difficulty walking, Myopathy, Gowers sign, Progressive external ophthalmoplegia... ORPHA:352470
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Diaphragmatic weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness... OMIM:601462
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... OMIM:300816
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Fiber type grouping, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotro... OMIM:608340
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Progressive muscle weakness, Gowers sign, Distichiasis, Scapular winging, Muscle... OMIM:600462
Congenital Multicore Myopathy With External Ophthalmoplegia
Type 1 muscle fiber predominance, Muscle weakness, Axial muscle weakness, Tibialis anterior muscl... ORPHA:98905
Sandhoff Disease, Adult Form
Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Muscle fiber atrophy ORPHA:309169
Parastremmatic Dwarfism
Scoliosis, Severe short stature, Short neck, Kyphosis, Flexion contracture OMIM:168400
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Tip-toe gait, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles... ORPHA:353
Dpm3-Cdg
Muscular dystrophy, Muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Calf muscle ... ORPHA:263494
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... ORPHA:34515
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, External ophthal... OMIM:255320
Congenital Muscular Dystrophy, Ullrich Type
Diaphragmatic weakness, Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abno... ORPHA:75840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Gait disturbance, Shoulder girdle muscle weakness, Falls, Myopathy, Gowers sign, Progressive exte... OMIM:615156
Congenital Myopathy 10A, Severe Variant
Diaphragmatic weakness, Camptodactyly of finger, Poor head control, Diaphragmatic paralysis, EMG:... OMIM:614399
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... OMIM:611705
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Inability to walk, Ataxia, Increased variability in muscle fiber diameter OMIM:617915
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Ankle flexion contractu... OMIM:613818
Spastic Ataxia 1, Autosomal Dominant
Leg muscle stiffness, Gait disturbance, Ptosis, Spastic ataxia OMIM:108600
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Myopathy, Pelvic girdle muscle weakness, Waddling gait, Increased variability... ORPHA:119
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Gowers sign, Skeletal muscle atrophy, Proximal... OMIM:310440
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... OMIM:613954
Muscular Dystrophy, Congenital, With Or Without Seizures
Progressive muscle weakness, Ataxia, Hypoglycosylation of alpha-dystroglycan, Loss of ambulation,... OMIM:620166
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Type 1 muscle fiber predominance, Thoracic kyphoscoliosis, Muscle weakness, Ankle weak... ORPHA:98913
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Gait disturbance, Ataxia, Skeletal muscle atrophy, Kyphosis, Distal muscle weakness ORPHA:101078
Congenital Myopathy 15
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... OMIM:620161
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, General... OMIM:255310
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Thoracic kyphosis, Inability to walk, Left ventricular hypertrophy, Abnorma... ORPHA:206546
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fiber diameter OMIM:619065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Progressive muscle weakness, Neck flexor weakness, Progressive external ophthalmo... OMIM:157640
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Ataxia, Unsteady gait, Short stature, Muscle weakness, Congenital di... OMIM:615919
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Poor head control, Minicore myopathy, Neck muscle weakness, Respiratory insuffic... ORPHA:486815
Childhood-Onset Nemaline Myopathy
Scoliosis, Arthrogryposis multiplex congenita, Facial diplegia, Neck muscle weakness, Myopathy, R... ORPHA:171439
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Weakness of facial musculature, External ophthalmoplegia, Proximal muscle weakness, Dista... OMIM:618637
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
Marcus Gunn Phenomenon
Congenital ptosis, Unilateral ptosis OMIM:154600
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Bilateral ptosis, External ophthalmoplegia, Fatigable weakness, Hyperlordosis, ... OMIM:614198
Typical Nemaline Myopathy
Scoliosis, Type 1 muscle fiber predominance, Spinal rigidity, Axial muscle weakness, Fatiguable w... ORPHA:171436
Nemaline Myopathy 8
Myofibrillar myopathy, Ophthalmoparesis, Nemaline bodies, Facial palsy, Muscle weakness, Flexion ... OMIM:615348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Skeletal muscle atrophy, Proximal muscle weakness, Centrally nucleated skelet... OMIM:616812
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Gait disturbance, Distal l... OMIM:616668
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Gait disturbance, Unsteady gait, Bilateral ptosis, Broad-based gait, Lower limb muscle weakness, ... OMIM:616479
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Beevor's sign, Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle ... ORPHA:437572
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Poor head control, Myopathy, Kyphosis, Spinal rigidity, Flexion contracture, Generaliz... OMIM:618323
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Weakness of facial musculature, Flexion contracture of finger, Proximal muscle weakn... OMIM:618484
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type grouping, Distal lower limb muscle ... OMIM:619903
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Congenital Myopathy 13
Scoliosis, Gowers sign, Downslanted palpebral fissures, Skeletal muscle atrophy, Short stature, S... OMIM:255995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Achilles tendon contracture, Muscle weakness, Thigh hypertrophy, Proximal amyotrophy, ... OMIM:606612
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal mitochondria in muscle tissue, Muscle weakness, Ptosis, Ophthalmoplegia OMIM:258470
Congenital Myopathy 24
Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, Facial palsy, M... OMIM:617336
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Steppage gait, Proximal muscle weakness, Distal muscle weakness, Upper limb mu... OMIM:605588
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Neck muscle weakness, Gowers sign, Generalized muscle weakness, Facial palsy, Fatigable weakness,... OMIM:616325
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Muscle weakness ORPHA:330054
Scapuloperoneal Spinal Muscular Atrophy
Diaphragmatic weakness, Scoliosis, Torticollis, Peroneal muscle atrophy, Muscle fiber splitting, ... OMIM:181405
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness, Congenital muscular dystrophy OMIM:254100
Arts Syndrome
Progressive muscle weakness, Ataxia, Growth delay OMIM:301835
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Gait disturbance, Kyphosis, Ptosis ORPHA:1875
Central Core Disease
Myopathy, Type 1 muscle fiber predominance, Central core regions in muscle fibers, Respiratory in... ORPHA:597
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Neck muscle weakness, Weakness of facial musculature, Muscle weakness, Fatigable weakness of skel... OMIM:616324
Combined Oxidative Phosphorylation Deficiency 8
Generalized muscle weakness, Neonatal death, Increased variability in muscle fiber diameter OMIM:614096
Congenital Myopathy 2A, Typical, Autosomal Dominant
Bulbar palsy, Neck flexor weakness, Late-onset distal muscle weakness, Type 1 muscle fiber predom... OMIM:161800
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Falls, Gowers sign, Arthrogryposis multiplex congenita, Generalized muscle weakness, Ptosis OMIM:616326
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:616470
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Inability to walk, Facial diplegia, Short neck, Difficulty walking, Respiratory insuff... OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Scoliosis, Gait disturbance, Ataxia, Kyphosis, Distal upper limb am... ORPHA:101075
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Shoulder flexion contractu... OMIM:617114
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Unsteady gait, Ataxia, Loss of ambulation, Kyphosis, Short stature, Distal muscle weak... OMIM:618124
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, Difficulty walking... ORPHA:370980
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Viral infection-induced rhabdomyolysis, Bilateral ptosis, Ataxia, Lower limb muscle weakness, Pro... ORPHA:329314
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Gowers sign, Skeletal mu... OMIM:608931
King-Denborough Syndrome
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Bilateral ptosis, Short neck, Minicore myopat... OMIM:619542
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Proximal muscle weakness in lower limbs, Hypoglycosylation of alpha-dystroglycan, S... ORPHA:352479
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Myopathy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Type ... OMIM:605809
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Necklace skeletal muscle fibers, Fatigable weakness of bulbar mus... ORPHA:596
Amyotrophic Lateral Sclerosis 21
Bulbar palsy, Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle wea... OMIM:606070
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Scapuloperoneal weakness, Proximal amyotrophy, Type 1 muscle fiber p... OMIM:255160
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Fatigable weakness of respiratory muscles, Scoliosis, Neck flexor weakness, Bilateral ptosis, Res... ORPHA:329336
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis OMIM:615159
Infantile-Onset X-Linked Spinal Muscular Atrophy
Spinal muscular atrophy, Weakness of facial musculature, Inflammatory myopathy, Knee flexion cont... ORPHA:1145
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Short stature, Increased variability in muscle fiber ... OMIM:226670
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Neonatal death OMIM:300076
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Poor head control, Generalized muscle weakness, Loss of ambulation, Ptosis OMIM:616321
Congenital Fiber-Type Disproportion Myopathy
Poor head control, Scoliosis, Respiratory insufficiency due to muscle weakness, Intercostal muscl... ORPHA:2020
Infantile Refsum Disease
Facial palsy, Progressive muscle weakness, Short stature, Ataxia ORPHA:772
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Episodic flaccid weakness, Abnormal muscle fiber morph... ORPHA:681
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Increased variability in muscle fiber diameter OMIM:613752
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Type 2 muscle f... OMIM:254210
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Scoliosis, Progressive proximal muscle weakness, Difficulty walking, Myopathy, Limb-girdle muscul... ORPHA:369847
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:98863
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Proximal muscle weakness, Fat... ORPHA:397744
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Neck muscle weakness, Muscle weakness, Facial palsy, Fatigable weakness, Ptosis, Ophthalmoplegia OMIM:616322
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Minicore myopathy, Arthrogryposis multiplex congenita, Short neck, Kyphosis, Increased... ORPHA:178148
Ptosis-Vocal Cord Paralysis Syndrome
Severe short stature, Ptosis ORPHA:2997
Cap Myopathy
Lower limb amyotrophy, Poor head control, Fatiguable weakness of proximal limb muscles, Lower lim... ORPHA:171881
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers OMIM:616794
Cdkl5-Deficiency Disorder
Scoliosis, Poor head control, Gait disturbance, Difficulty walking, Synophrys, Kyphosis, Growth d... ORPHA:505652
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Respiratory insufficiency due to muscl... OMIM:618276
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Fiber type grouping, Plantar flexion contracture, Wrist drop, Distal arthrogryposis, Arthrogrypos... OMIM:620011
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Gait disturbance, Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Gowers sign, Respiratory insufficiency due to muscle weakness, EMG: myopathic ab... OMIM:609560
Myopathy, Centronuclear, 5
Weakness of facial musculature, Proximal muscle weakness, Muscle weakness, Centrally nucleated sk... OMIM:615959
2p15-16.1 microdeletion syndrome
Downslanted palpebral fissures, Camptodactyly of finger, Telecanthus, Ptosis DECIPHER:70
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Poor head control, Abs... ORPHA:324604
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Gait disturbance, Ataxia, Skeletal muscle hypertrophy, Kyphosis, Muscle weakness ORPHA:99014
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:98853
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Flexion con... OMIM:609308
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Myopathy, Increased muscle glycogen content, Muscle weakness, Increased muscle lipi... ORPHA:254864
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Proximal muscle weakness, Centrally nucleated skeletal mus... ORPHA:401768
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Inability to walk, Lumbar hyperlordosis, Ataxia, Kyphosis, Short stature, Waddling gai... OMIM:616756
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Decreased muscle mass, S... ORPHA:57
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Scoliosis, Vertebral fusion, Shoulder girdle muscle weakness, Difficulty walking, T... OMIM:607155
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
External ophthalmoplegia, Congenital ptosis, Fatigable weakness, Proximal muscle weakness OMIM:254190
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skeletal muscle atrophy, Muscle weak... OMIM:616867
Arthrogryposis Multiplex Congenita 6
Akinesia, Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fi... OMIM:619334
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Knee flexion contracture, Intrauterine growth retardation, Short stature, Thick eyebrow, Interpha... OMIM:606242
Myasthenic Syndrome, Congenital, 20, Presynaptic
Bulbar palsy, Scoliosis, Neck muscle weakness, Skeletal muscle atrophy, Kyphosis, Ophthalmoparesi... OMIM:617143
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Yoon-Bellen Neurodevelopmental Syndrome
Scoliosis, Inability to walk, Bilateral ptosis, Hypomimic face, Ataxia, Downslanted palpebral fis... OMIM:619701
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Disp... ORPHA:40
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Upslanted palpebral fissure, Ptosis OMIM:620086
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Proxima... OMIM:615352
Fazio-Londe Disease
Diaphragmatic weakness, Bulbar palsy, Facial diplegia, Ptosis OMIM:211500
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Gowers sign, Muscular dystrophy, Facial palsy, Muscle weakness, Increased endomysial co... OMIM:602541
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Ragged-red muscle fibers, Myopathy OMIM:618242
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly, Short stature OMIM:618453
Intermediate Nemaline Myopathy
Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, EMG: myopathic abnorm... ORPHA:171433
Creatine Phosphokinase, Elevated Serum
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... OMIM:123320
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Shoulder flexion contracture, Foot joint contracture, Congenital finger flexion contra... ORPHA:536516
Myasthenic Syndrome, Congenital, 22
Short stature, Proximal muscle weakness, Muscle weakness, Waddling gait, Ptosis OMIM:616224
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Spinal rigidity, Achilles tendon contracture, Rimmed vacuo... ORPHA:98855
Myopathy, Myofibrillar, 8
Scoliosis, Neck muscle weakness, Gowers sign, Joint contracture of the 5th finger, Central core r... OMIM:617258
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive muscle weakness, Progressive external ophthalmoplegia, Facial palsy, Ptosis, Limb mus... OMIM:610131
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Proximal muscle weakness, Ragged-red muscle fibers OMIM:618416
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ataxia, Loss of ambulation, Decreased level of coenzyme Q10 in skele... OMIM:607426
Arthrogryposis, Distal, Type 2B3
Camptodactyly, Scoliosis, Downslanted palpebral fissures, Short stature, Ptosis OMIM:618436
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Type 1 muscle fiber predominance, Respiratory insufficie... OMIM:254090
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Gait disturbance, Ataxia, Synophrys, Kyphosis, Muscle weakness ORPHA:85317
Myoclonus, Intractable, Neonatal
Athetosis, Increased variability in muscle fiber diameter OMIM:617235
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Scoliosis, Myopathy, Distichiasis, Kyphosis, Generalized limb muscle atrophy ORPHA:2598
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Epicanthus, Short stature ORPHA:85288
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Ataxia, Left ventricular noncompaction, Short stature, Mu... OMIM:252011
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Scapular winging, Limb-girdle muscu... ORPHA:206559
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Scoliosis, Long eyelashes, Ataxia, Intrauterine growth retardation, Shor... ORPHA:48431
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Distal amyotrophy, Facial palsy, Type 2 muscle fiber atrophy, Type 1 muscle fi... OMIM:617519
Spinocerebellar Ataxia 28
Limb ataxia, Ophthalmoparesis, Ptosis, Gait ataxia, Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Muscle weakness, Growth delay, Generalized amyo... OMIM:613561
Congenital Myopathy 19
Scoliosis, Gait disturbance, Respiratory insufficiency due to muscle weakness, Skeletal muscle at... OMIM:618578
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Spinal muscular atrophy, Myopathy, Respiratory insufficiency due to muscle weakness, F... OMIM:301830
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Ptosis OMIM:617732
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Disproportionate short-trunk short stature, Kyphosis, Squared-off platyspo... OMIM:271530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Scoliosis, Limb ataxia, Bilateral ptosis, Respiratory insufficiency due to muscle weakness, Progr... OMIM:258450
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Limb ataxia, Difficulty walking, Spastic ataxia, Abnormal eyelid morphology... ORPHA:251282
Triosephosphate Isomerase Deficiency
Progressive muscle weakness, Unsteady gait, Myopathy, Respiratory insufficiency due to muscle wea... OMIM:615512
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Distal amyotrophy, Kyphosis, Ptosis ORPHA:3454
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Bulbar palsy, Ankle weakness, Shoulder girdle muscle weaknes... ORPHA:600
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Scoliosis, Inability to walk, Bilateral ptosis, Difficulty walking, Skeletal muscle atrophy, Dela... ORPHA:330050
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Proximal muscle weakness, Distal muscle weakness, Facial palsy, ... OMIM:616720
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, EMG: myopathic abnormalities, Short stature, Fatty replacemen... ORPHA:52430
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Narrow palpebral fissure, Scoliosis, Scheuermann-like vertebral changes, Short s... OMIM:301900
Whistling Face Syndrome, Recessive Form
Camptodactyly, Epicanthus, Short neck, Knee flexion contracture, Short palpebral fissure, Shoulde... OMIM:277720
Arthrogryposis, Distal, Type 7
Arthrogryposis multiplex congenita, Distal arthrogryposis, Short stature, Ptosis OMIM:158300
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Scoliosis, Downslanted palpebral fissures, Intrauterine growth retardation, Thick eye... OMIM:615834
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Short stature, Contracture of ... OMIM:609813
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Facial diplegia, Intrinsic hand muscle atrophy... ORPHA:329478
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, Progressive proximal muscle weakness, Myopathy, Ataxia, Difficul... ORPHA:98907
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Myopathy, Hand muscle weakness, Muscle fiber atrophy, Proximal muscle weakness, External ... ORPHA:254886
Brachyolmia Type 1, Toledo Type
Gait disturbance, Irregular vertebral endplates, Short neck, Childhood-onset short-trunk short st... OMIM:271630
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Epicanthus, Short stature, Kyphosis OMIM:300434
Gm1-Gangliosidosis, Type Iii
Scoliosis, Ataxia, Skeletal muscle atrophy, Kyphosis, Short stature, Platyspondyly, Anterior beak... OMIM:230650
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia, Short stature, Facial myokymia OMIM:620007
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Diastasis recti, Epicanthus, Scoliosis, Progressive muscle weakness, Inability to w... ORPHA:488632
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Progressive external ophthalmoplegia, Kyphosis, Spinal rigidity, Facial pals... OMIM:615084
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Muscle weakness, Generalized muscle weakness, Progressive external ophthalmoplegia, Ragged-red mu... OMIM:613662
Brown-Vialetto-Van Laere Syndrome 1
Diaphragmatic weakness, Bulbar palsy, Scoliosis, Ataxia, Neck muscle weakness, Skeletal muscle at... OMIM:211530
Striatonigral Degeneration, Infantile, Mitochondrial
Ophthalmoparesis, Ragged-red muscle fibers OMIM:500003
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Neck flexor weakness, Ataxia, Broad-based gait, Progressive external ophthalmoplegia, Proximal mu... OMIM:618098
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Limb ataxia, Kyphosis, Gait ataxia, Ptosis, Dysmetria OMIM:610743
Dk1-Cdg
Progressive muscle weakness, Short stature ORPHA:91131
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Progressive cerebellar ataxia, Difficulty walking, Broad-based gait, ... ORPHA:363429
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Rhabdomyolysis, Progressive muscle weakness, Skeletal muscle atrophy, Short stature, Pelvic girdl... ORPHA:79240
Neutral Lipid Storage Myopathy
Shoulder girdle muscle weakness, Progressive proximal muscle weakness, Neck muscle weakness, Gowe... ORPHA:98908
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Short stature, Highly arched eyebrow, Growth delay, Ptosis ORPHA:438178
Immune-Mediated Necrotizing Myopathy
Fatiguable weakness of proximal limb muscles, Proximal muscle weakness in lower limbs, Myopathy, ... ORPHA:206569
Amyotrophy, Hereditary Neuralgic
Epicanthus, Skeletal muscle atrophy, Short stature, Upslanted palpebral fissure, Muscle weakness,... OMIM:162100
Parkinsonism-Dystonia 2, Infantile-Onset
Poor head control, Ataxia, Hypomimic face, Shuffling gait, Dysdiadochokinesis, Ptosis OMIM:618049
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Masa Syndrome
Kyphosis, Short stature, Shuffling gait, Hyperlordosis OMIM:303350
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Proximal muscle weakness, Decreased level of coenzyme Q10 in skeletal muscle, Increased i... OMIM:612016
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Gait ataxia, Limb dysmetria, Ptosis, Dysmetria ORPHA:324262
Wernicke-Korsakoff Syndrome
Ataxia, Ptosis, Ophthalmoplegia OMIM:277730
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Intrauterine growth retardation, Kyphosis, Neonatal death, Flexion contracture OMIM:618237
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, Short stature, EMG: myopathic abnormalities, Highly arched eyebro... ORPHA:457365
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Rhabdomyolysis, Delayed puberty, Progressive muscle weakness, Skeletal muscle atrophy, Muscle wea... ORPHA:370
Richieri Costa-Da Silva Syndrome
Diastasis recti, Inability to walk, Falls, Short neck, Distal lower limb muscle weakness, Decreas... ORPHA:3101
Mitochondrial Complex I Deficiency, Nuclear Type 16
Scoliosis, Aplasia of the left hemidiaphragm, Intrauterine growth retardation, Choreoathetosis, P... OMIM:618238
Benign Samaritan Congenital Myopathy
Lethargy, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Sandhoff Disease
Muscle weakness, Kyphosis, Ataxia ORPHA:796
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Congenital Myasthenic Syndrome
Bulbar palsy, Poor head control, Distal lower limb muscle weakness, Spinal rigidity, Neuropathic ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Bulbar palsy, Poor head control, Distal lower limb muscle weakness, Spinal rigidity, Neuropathic ... ORPHA:98914
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Poor head control, Bilateral ptosis, Neck muscle weakness, Hand muscle weakness, Type ... ORPHA:98915
Mcdonough Syndrome
Scoliosis, Aplasia/Hypoplasia of the abdominal wall musculature, Synophrys, Short stature, Kyphos... ORPHA:2471
Microcephaly 16, Primary, Autosomal Recessive
Short stature, Knee flexion contracture, Telecanthus, Ptosis OMIM:616681
Hypertrichosis Cubiti
Abnormal eyelash morphology, Abnormal nasolacrimal system morphology, Severe short stature, Downs... ORPHA:2220
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ophthalmoparesis, Facial palsy, Oculomotor nerve palsy, Ptosis, Ophthalmoplegia ORPHA:2743
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Gait disturbance, Synophrys, Thick eyebrow, Kyphosis ORPHA:2429
Combined Oxidative Phosphorylation Defect Type 13
Poor head control, Type 1 muscle fiber predominance, Intrauterine growth retardation, Type 2 musc... ORPHA:319514
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia,... ORPHA:352447
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Camptodactyly, Poor head control, Distal arthrogryposis, Knee flexion contracture, Scapular wingi... OMIM:617468
Myopathy With Lactic Acidosis, Hereditary
Rhabdomyolysis, Myopathy, Skeletal muscle atrophy, Ophthalmoparesis, Distal muscle weakness, Musc... OMIM:255125
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Progressive proximal muscle weakness, Skeletal muscle atrophy, Increased muscle g... ORPHA:368
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Growth delay, External ophthalmoplegia, Increased variability in muscle fibe... OMIM:619026
Combined Oxidative Phosphorylation Deficiency 20
Ataxia, Left ventricular noncompaction, Progressive external ophthalmoplegia, Muscle weakness, Pt... OMIM:615917
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Short neck, Skeletal muscle atrophy, Kyphosis, Neonatal death, Arthrogryposis mult... OMIM:618393
Glycogen Storage Disease Due To Acid Maltase Deficiency
Diaphragmatic weakness, Fatigable weakness of respiratory muscles, Macroglossia, Scoliosis, Inabi... ORPHA:365
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Downslanted palpebral fissures, Scoliosis, Short stature ORPHA:276630
Schwartz-Jampel Syndrome, Type 1
Scoliosis, Muscle weakness, Quadriceps muscle weakness, Shoulder flexion contracture, Blepharophi... OMIM:255800
Trismus-Pseudocamptodactyly Syndrome
Short stature, Ptosis ORPHA:3377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Poor head control, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, ... OMIM:615351
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Scoliosis, Bilateral ptosis, Joint contracture of the 5th finger, Upslanted palpebral... ORPHA:352490
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short neck, Thoracolumbar scoliosis, Myopathy, Short stature, Nemaline bodies, Cervical C2/C3 ver... OMIM:616549
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Knee flexion contracture, Kyphosis, Flexion contracture of finger, ... OMIM:619040
Spinocerebellar Ataxia, Autosomal Recessive 31
Lumbar kyphoscoliosis, Ataxia, External ophthalmoplegia, Muscle weakness, Growth delay, Choreoath... OMIM:619422
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Lower limb muscle weakness, Distal amyotrophy, Dysdiadochokinesis, Spastic ataxia, Increa... OMIM:614487
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Ataxia, Short stature, Dysdiadochokinesis, Gait ataxia, Ptosis, Dysmetria OMIM:614831
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Waddling gait, Short stature OMIM:618392
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Scoliosis, Epicanthus, Lumbar hyperlordosis, Camptodactyly of toe, Short... OMIM:114300
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging OMIM:613507
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Ptosis, Horizontal eyebrow OMIM:619311
Cornelia De Lange Syndrome 2
Long eyelashes, Short neck, Synophrys, Downslanted palpebral fissures, Intrauterine growth retard... OMIM:300590
Neuronopathy, Distal Hereditary Motor, Type X
Small thenar eminence, Fiber type grouping, Distal lower limb muscle weakness, Scapular winging, ... OMIM:620080
Proximal Xq28 Duplication Syndrome
Epicanthus, Gait disturbance, Short stature, Blepharophimosis, Ptosis ORPHA:1762
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Type 1 muscle fiber predominance, Respiratory insufficie... ORPHA:169189
Arthrogryposis, Distal, Type 5
Scoliosis, Epicanthus, Distal arthrogryposis, Decreased muscle mass, Short stature, Kyphosis, Fir... OMIM:108145
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Adult Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Ptosis, Muscle weakness ORPHA:178487
Bruck Syndrome 1
Scoliosis, Vertebral wedging, Knee flexion contracture, Short stature, Kyphosis, Platyspondyly, P... OMIM:259450
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Muscle fiber atrophy, Muscle weaknes... OMIM:616866
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Upper limb dysmetria, Lower limb muscle weakness, Kyphosis, Limb dysmetria, Spastic ga... OMIM:614409
Hemifacial Atrophy, Progressive
Horner syndrome, Blepharophimosis, Kyphosis, Ataxia OMIM:141300
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Triceps weakness, First dorsal interossei muscle weakness, Distal ... OMIM:619574
Spastic Paraplegia Type 7
Lower limb muscle weakness, Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle ... ORPHA:99013
Zimmermann-Laband Syndrome 2
Macroglossia, Long eyelashes, Short neck, Synophrys, Thick eyebrow, Short stature, Kyphosis OMIM:616455
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Unsteady gait, Ataxia, Synophrys, Kyphosis OMIM:300861
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Abnormal mitochondria in muscle tissue, Ataxia, Lower limb muscle weakness, Distal amyotrophy, Dy... ORPHA:313772
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Combined Oxidative Phosphorylation Defect Type 7
Bulbar palsy, Inability to walk, Facial diplegia, Ataxia, Lower limb muscle weakness, Distal amyo... ORPHA:254930
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Ptosis OMIM:605407
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Abnormality of the musculature of the lower limbs, Unsteady gait, Ataxia, Difficulty w... ORPHA:464282
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Scoliosis, Epicanthus, Short stature, Ptosis ORPHA:1825
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... OMIM:615418
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Kne... OMIM:310300
Spinocerebellar Ataxia Type 28
Ophthalmoparesis, Limb ataxia, Gait ataxia, Ptosis ORPHA:101109
Sialidosis Type 2
Ataxia, Skeletal muscle atrophy, Kyphosis, Short stature, Muscle weakness, Flexion contracture ORPHA:87876
Trisomy 5P
Scoliosis, Short stature, Ptosis ORPHA:1742
Fibrosis Of Extraocular Muscles, Congenital, 1
Congenital fibrosis of extraocular muscles, Restrictive external ophthalmoplegia, Superior rectus... OMIM:135700
Microphthalmia, Syndromic 13
Kyphoscoliosis, Short stature, Ptosis OMIM:300915
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Progressive muscle weakness, Ataxia, Skeletal muscle atrophy, Loss of ambulation, Short stature, ... OMIM:256810
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Fiber type grouping, Distal lower limb muscle weakness, Thenar musc... OMIM:500013
Zimmermann-Laband Syndrome 3
Long eyelashes, Synophrys, Thick eyebrow, Kyphosis, Flexion contracture OMIM:618658
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Progressive muscle weakness, Skeletal muscle atrophy, Short stature, Growth dela... ORPHA:264580
Spastic Paraplegia 53, Autosomal Recessive
Upper limb hypertonia, Lower limb hypertonia, Gait disturbance, Kyphosis OMIM:614898
Charcot-Marie-Tooth Disease Type 4B2
Scoliosis, Proximal muscle weakness in lower limbs, Inability to walk, Difficulty walking, Distal... ORPHA:99956
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Short stature, Ptosis ORPHA:1373
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Distal amyotrophy, Dysdiadochokinesis... OMIM:617675
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Distal amyotrophy, Respiratory insufficiency due to muscle weakness, EMG: my... OMIM:164310
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Limb ataxia, Hypomimic face, Gait ataxia, Ptosis OMIM:619862
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Synophrys, Thick eyebrow, Short stature, Weak extraocular muscles, Ble... OMIM:210745
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Fiber type grouping, Myopathy, Weakness of facial musculature, Progressive external ophthalmopleg... OMIM:607459
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Muscle weakness, Ophthalmoparesis, Progressive external ophthalmoplegia, Ragged-red muscle fibers ORPHA:1349
Optic Atrophy 11
Ataxia, Fiber type grouping, Facial diplegia, Gait apraxia, Athetosis, Increased variability in m... OMIM:617302
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Nonprogressive restrictive external ophthalmoplegia, Congenital fibrosis of extraocular muscles, ... OMIM:600638
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Knee flexion co... OMIM:619461
Coffin-Siris Syndrome 8
Scoliosis, Long eyelashes, Thick eyebrow, Ptosis OMIM:618362
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
External ophthalmoplegia, Scoliosis, Torticollis, Ptosis OMIM:618155
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Thoracolumbar scoliosis, Knee flexion contracture, Kyphosis, Platyspondyly,... OMIM:313420
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Inability to walk, Short neck, Weakness of facial musculature, Kyphosis, Short stature... OMIM:301041
Intellectual Developmental Disorder, Autosomal Dominant 23
Scoliosis, Synophrys, Downslanted palpebral fissures, Sacral dimple, Upslanted palpebral fissure,... OMIM:615761
Kleefstra Syndrome 2
Kyphosis, Scoliosis, Thick eyebrow, Growth delay OMIM:617768
Riboflavin Transporter Deficiency
Bulbar palsy, Ataxia, Skeletal muscle atrophy, Facial palsy, Muscle weakness, Ptosis, Limb muscle... ORPHA:97229
Uruguay Faciocardiomusculoskeletal Syndrome
Camptodactyly of toe, Scoliosis, Camptodactyly, Difficulty walking, Left ventricular hypertrophy,... OMIM:300280
Wieacker-Wolff Syndrome
Camptodactyly, Scoliosis, Congenital foot contractures, Short neck, Distal amyotrophy, Short stat... OMIM:314580
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Leg muscle stiffness, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tortuo... ORPHA:284289
Glycogen Storage Disease Vii
Muscle weakness, Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Myasthenic Syndrome, Congenital, 24, Presynaptic
Camptodactyly, Distal arthrogryposis, Knee flexion contracture, Muscle weakness, Ptosis, Ophthalm... OMIM:618198
Hypotonia-Cystinuria Syndrome
Facial palsy, Postnatal growth retardation, Ragged-red muscle fibers, Muscle weakness OMIM:606407
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Gait disturbance, Ataxia, Lower limb muscle weakness, Skeletal muscle atrophy, Kyphosi... ORPHA:88644
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Gowers sign, Weakness of facial musculature, Increased muscle glycogen content, EMG: myopathic ab... ORPHA:502423
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Leg muscle stiffness, Progressive cerebellar ataxia, Unsteady gait, Difficulty walking, Loss of a... ORPHA:137898
Intellectual Developmental Disorder, Autosomal Dominant 35
Scoliosis, Downslanted palpebral fissures, Intrauterine growth retardation, Congenital muscular t... OMIM:616355
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis, Ophthalmoplegia OMIM:258400
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Ck Syndrome
Scoliosis, Epicanthus, Upslanted palpebral fissure, Kyphosis, Almond-shaped palpebral fissure, Hy... OMIM:300831
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Short stature, Ophthalmoparesis, Abnormal muscle fiber morphology, Facia... ORPHA:3068
Distal Duplication 15Q
Camptodactyly of finger, Short neck, Downslanted palpebral fissures, Intrauterine growth retardat... ORPHA:1707
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle ... ORPHA:171430
Retinal Dystrophy With Leukodystrophy
Falls, Bilateral ptosis, Gowers sign, Proximal muscle weakness, Waddling gait, Dysmetria OMIM:618863
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Hengel-Maroofian-Schols Syndrome
Epicanthus, Inability to walk, Synophrys, Thick eyebrow, Short stature, Foot joint contracture, G... OMIM:619641
Proteus Syndrome
Downslanted palpebral fissures, Spinal canal stenosis, Limbal dermoid, Kyphoscoliosis, Ptosis OMIM:176920
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Facial diplegia, Lower limb muscle weakness, Steppage gait, Foot dorsiflexor weakness, Ptosis, Ge... ORPHA:521411
3Mc Syndrome
Diastasis recti, Scoliosis, Prominent coccyx, Downslanted palpebral fissures, Epicanthus inversus... ORPHA:293843
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Type 1 muscle fiber predominance, Poor head control, Increased variability in muscle fiber diamet... OMIM:612949
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Epicanthus, Irregular vertebral endplates, Intrauterine growth retardation, Kyphosis, ... OMIM:234250
Native American Myopathy
Camptodactyly, Progressive congenital scoliosis, Inability to walk, Bilateral ptosis, Downslanted... ORPHA:168572
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Scoliosis, Epicanthus, Inability to walk, Short neck, Downslanted palpebral fissures, Intrauterin... OMIM:616801
Spinocerebellar Ataxia 36
Limb ataxia, Ataxia, Skeletal muscle atrophy, Muscle weakness, Gait ataxia, Truncal ataxia, Ptosis OMIM:614153
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of ... ORPHA:1354
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Sacral dimple, Ptosis, Abnormal form of the vertebral ... ORPHA:2064
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Ataxia, Skeletal muscle atrophy, External ophthalmoplegia, Muscle weakness, Faci... OMIM:613559
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Proximal muscle weakness, Limb-girdle muscula... ORPHA:369840
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis, Growth delay OMIM:616154
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Lumbar hyperlordosis, Severe short stature, Thoracic kyphosis, Gait disturbance, Abnor... ORPHA:93314
Diabetes And Deafness, Maternally Inherited
External ophthalmoplegia, Unsteady gait, Ptosis OMIM:520000
Ophthalmoplegia, Familial Total, With Iris Transillumination