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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Distal muscle weakness, Ty... OMIM:618655
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf mu... OMIM:618848
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal muscle weak... OMIM:605820
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Proximal muscle weakness, Rimmed va... ORPHA:611
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, External ophthalmoplegia, Increased endomysial connective tissue, D... OMIM:618940
Distal Anoctaminopathy
Difficulty walking, Rhabdomyolysis, Proximal muscle weakness in upper limbs, Progressive muscle w... ORPHA:399096
Inclusion Body Myositis
Distal muscle weakness, Inflammatory myopathy, Rimmed vacuoles, Proximal muscle weakness OMIM:147421
Welander Distal Myopathy
Distal muscle weakness, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Gne Myopathy
Muscle weakness, EMG: myopathic abnormalities, Shoulder girdle muscle atrophy, Scapular winging, ... ORPHA:602
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fiber... OMIM:616852
Spinal Muscular Atrophy, Infantile, James Type
Muscle weakness, Lower limb muscle weakness, Distal muscle weakness, Type 1 muscle fiber predomin... OMIM:619042
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Respiratory insufficie... ORPHA:178464
Myasthenic Syndrome, Congenital, 13
Scoliosis, Muscle fiber tubular inclusions, Proximal muscle weakness, Fatigable weakness, Ptosis OMIM:614750
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Scoliosis, EMG: myopathic abnormalities, Weakness of orbicularis oculi musc... ORPHA:59135
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Facial diplegia, Progressive distal muscle we... ORPHA:399058
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory insufficiency du... OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Myopathy, Distal, 5
Facial palsy, Distal amyotrophy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Fatiguable weakness of proximal limb muscles, Muscle fiber tubular ... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Muscular Dystrophy, Congenital, Merosin-Positive
Neck muscle weakness, Congenital muscular dystrophy, Flexion contracture, Respiratory insufficien... OMIM:609456
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Gait disturbance, Weakness of th... ORPHA:98912
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Distal upper limb muscle weakness, Peroneal muscle atrophy, Increas... ORPHA:609
Desminopathy
Fatigable weakness of respiratory muscles, Thoracic kyphoscoliosis, Fatigable weakness of bulbar ... ORPHA:98909
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Achilles tendon contracture, Proximal muscle weakness, Distal... OMIM:609200
Oculopharyngeal Muscular Dystrophy
Neck muscle weakness, Progressive ptosis, Gait disturbance, Proximal muscle weakness, Distal musc... OMIM:164300
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Proxi... OMIM:609524
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Progressive distal muscle weakness, ... ORPHA:399086
Myasthenic Syndrome, Congenital, 18
Muscle weakness, Difficulty walking, Flexion contracture, Ataxia, Ptosis OMIM:616330
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Fatigable weakness, Ptosis, Multiple joint contractures OMIM:616227
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, D... ORPHA:603
Distal Myotilinopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Loss of ability to walk in firs... ORPHA:98911
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Distal mu... OMIM:618654
Myopathy, Proximal, With Ophthalmoplegia
Neck muscle weakness, Scoliosis, Scapular winging, Congenital contracture, Proximal muscle weakne... OMIM:605637
Myopathy, Myofibrillar, 2
Neck muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency... OMIM:608810
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Proximal muscle weakness, Muscle fiber inclusion bodies, Rimmed v... OMIM:615424
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Proximal... OMIM:500002
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Generalized muscle weakness, Rimmed v... ORPHA:34516
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness, Neck flexor weakness OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weakness, Muscle fiber splittin... OMIM:253601
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Progressive distal muscle weakness, Progressive muscle weakness, Au... OMIM:609452
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Zebra Body Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Proximal musc... ORPHA:97240
Central Core Disease Of Muscle
Muscle weakness, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fiber... OMIM:117000
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Ankle flexion contracture, Weak... ORPHA:399103
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscle weakness, Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacem... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Respiratory insufficiency due to muscle weakness, Proxim... OMIM:617087
Myasthenic Syndrome, Congenital, 23, Presynaptic
Neck muscle weakness, Calf muscle hypertrophy, Ptosis, Muscle weakness OMIM:618197
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Generalized muscle weakness, Ty... ORPHA:178145
Bethlem Myopathy
Neck muscle weakness, Scoliosis, EMG: myopathic abnormalities, Reduced muscle collagen VI, Muscul... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Muscle weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness, Gowers sign, Rimmed va... OMIM:612937
Oculopharyngodistal Myopathy
Distal upper limb muscle weakness, Abnormality of masseter muscle, Distal lower limb amyotrophy, ... ORPHA:98897
Duchenne Muscular Dystrophy
Scoliosis, Flexion contracture, Proximal muscle weakness, Progressive muscle weakness, Waddling g... ORPHA:98896
Myasthenic Syndrome, Congenital, 17
Muscle weakness, Ptosis, Difficulty walking OMIM:616304
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Distal muscle w... OMIM:601846
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Progressive external ophthalmoplegia, Generalized muscle weakness, ... OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Late-onset distal muscle weak... OMIM:608423
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Respiratory insufficiency due to muscle weakness, Progres... ORPHA:663
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscle weakness, Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue,... OMIM:617072
Nemaline Myopathy 7
Neck muscle weakness, Muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers s... OMIM:610687
Distal Myopathy, Tateyama Type
Neck muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Int... ORPHA:488650
Glycogen Storage Disease Ixb
Muscle weakness, Increased muscle glycogen content, Short stature OMIM:261750
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Proximal muscle weak... OMIM:603689
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Myopathy, Distal, 1
Neck muscle weakness, Proximal muscle weakness, Distal muscle weakness, Type 1 muscle fiber predo... OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Proximal muscle weakness, Abdominal wall muscle weakness, ... OMIM:618129
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Scapuloperoneal weakness, Centrally nucleated ske... OMIM:608358
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Scapuloperoneal weakness, Flexion contracture, Proximal muscle weakness, Rimmed... OMIM:300696
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, External ophthalmoplegia, C... ORPHA:598
Nemaline Myopathy 5
Proximal amyotrophy, Z-band streaming, Type 1 muscle fiber predominance, Progressive muscle weakn... OMIM:605355
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... ORPHA:98902
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal... OMIM:613530
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Rimmed vacuoles, Myopathy, Ragged-red muscle f... ORPHA:270
Congenital Myopathy With Myasthenic-Like Onset
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Gait disturbance, Respiratory insuffic... ORPHA:424107
Myopathy And Diabetes Mellitus
Inability to walk, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Weakness of facial ... ORPHA:2596
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Scoliosis, Spinal muscular atrophy, Difficulty walking, Respiratory insufficienc... ORPHA:254875
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Skeletal muscle atrophy, Calf ... OMIM:617760
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Flexion contracture, Centrally nucleated skeletal ... OMIM:248800
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Respiratory insufficiency due to muscle weakness, Fatigable weakness, Gowers... OMIM:254300
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Loss of ability to walk, Pelvic girdle muscle weakness, Achilles te... ORPHA:254361
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis, Ptosis, Facial palsy, Short stature, Myopathy OMIM:253320
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal muscle weakne... OMIM:256030
Myasthenic Syndrome, Congenital, 12
Neck muscle weakness, Proximal amyotrophy, Fatigable weakness, Gowers sign, Facial palsy, Waddlin... OMIM:610542
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, EMG: myopathic abnormalities, Scapular winging, Kyphosis, Flexion contr... OMIM:255200
Myasthenic Syndrome, Congenital, 8
Muscle weakness, Ptosis, Facial palsy, Proximal muscle weakness OMIM:615120
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber ... ORPHA:169186
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Scapular winging, Difficulty walking, Muscle fiber tubular inclusions, Ragged-red musc... ORPHA:353327
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal muscle weakness, Distal amyotrophy, Late... OMIM:610099
Myopathy, Tubular Aggregate, 1
External ophthalmoplegia, Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic han... OMIM:160565
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb muscle weakness, Proximal muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Gowers sign, Calf muscle pseudohypertrophy, Reduced muscle fiber ... ORPHA:280333
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, External ophthalmoplegia, Skeletal muscle hypertrophy, Flexion cont... OMIM:160150
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Increased variability in muscle fib... ORPHA:171442
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively smaller than type 2 fi... OMIM:300580
Nemaline Myopathy 1
Neck muscle weakness, EMG: myopathic abnormalities, Shoulder girdle muscle atrophy, Flexion contr... OMIM:609284
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Gait disturbance, Kyphosis, Lower limb muscle weakness, Skeletal muscle atrophy OMIM:611225
Nemaline Myopathy 4
Neck muscle weakness, Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Go... OMIM:609285
Mitochondrial Myopathy, Infantile, Transient
Neck muscle weakness, Increased muscle glycogen content, Muscle weakness, Macroglossia, Increased... OMIM:500009
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Scoliosis, Flexion contracture, Distal muscle weakness, Facial palsy, Nemaline bodies, Distal amy... OMIM:607684
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory insufficiency du... OMIM:300718
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower li... ORPHA:276435
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait OMIM:600334
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Decreased muscle mass, Respiratory insufficiency due to muscle weakness... OMIM:603034
Myasthenic Syndrome, Congenital, 14
Scapular winging, Flexion contracture, Fatigable weakness, Gowers sign, Ragged-red muscle fibers,... OMIM:616228
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Muscle weakness, Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylatio... OMIM:616052
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Weakness of long finger extensor muscles, Progressive muscle ... ORPHA:641
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Flexion contracture, Severe short stature, Short neck OMIM:168400
Merrf
Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Generalized muscle weakness, Myopathy, Ptosis, Inability to walk OMIM:616321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Gait disturbance, Progressive external ophthalmoplegia, Proximal mu... OMIM:609286
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fibe... OMIM:619065
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Gowers sign, Limb-girdle muscle weak... OMIM:613818
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Scoliosis, Arthrogryposis multiplex congenita, Respiratory insufficiency du... OMIM:608930
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscle weakness, Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion c... OMIM:607855
Myopathy, Distal, 4
Muscle weakness, Proximal muscle weakness, Distal lower limb amyotrophy, Skeletal muscle atrophy,... OMIM:614065
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Ptos... OMIM:613561
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Myopathy OMIM:545000
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Ptosis, Gowers sign, Flexion contracture OMIM:616326
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Distal muscle weakness, Progressive external ophthalmoplegia, Skeletal ... OMIM:617070
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial ... OMIM:609384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Pure Mitochondrial Myopathy
Scoliosis, Fatigable weakness of swallowing muscles, Scapular winging, Fatigable weakness of bulb... ORPHA:254854
Congenital Multicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Muscular dystrophy, Muscle fiber hypertrophy, Shoulder girdle muscle we... ORPHA:98905
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Congenital ptosis, Difficulty walking, Gait disturbance, Progressive external opht... ORPHA:352470
Dpm3-Cdg
Muscle weakness, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Calf muscle ... ORPHA:263494
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Ragged-red muscle fibers OMIM:500003
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Triceps... ORPHA:86812
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
External ophthalmoplegia, Gait disturbance, Progressive external ophthalmoplegia, Gowers sign, Fa... OMIM:615156
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predomi... OMIM:618823
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skel... OMIM:300816
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Proximal muscle weakness, Shoulder girdle musc... ORPHA:34515
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Spastic Ataxia 1, Autosomal Dominant
Dystonia, Leg muscle stiffness, Spastic ataxia, Gait disturbance, Ptosis OMIM:108600
Minicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Ce... OMIM:255320
Congenital Muscular Dystrophy, Ullrich Type
Muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomy... ORPHA:75840
Childhood-Onset Nemaline Myopathy
Neck muscle weakness, Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita... ORPHA:171439
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Generalized muscle weakness, Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoplegia, In... OMIM:601462
Myopathy, Centronuclear, 4
Muscle weakness, Centrally nucleated skeletal muscle fibers OMIM:614807
Neutral Lipid Storage Disease With Myopathy
Neck muscle weakness, Increased muscle lipid content, Proximal muscle weakness, Gowers sign, Shor... OMIM:610717
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Rhabdomyolysis, Bradykinesia, Progressive external oph... OMIM:157640
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Myopat... ORPHA:119
Nemaline Myopathy 11, Autosomal Recessive
Gowers sign, Scapular winging, Nemaline bodies, Facial palsy OMIM:617336
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Pro... OMIM:255310
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, External ophthalmoplegia, Gait disturbance, Fatigable weakness, Ptosis OMIM:614198
Bethlem Myopathy 2
Muscle weakness, Scapular winging, Kyphosis, Flexion contracture, Myopathy OMIM:616471
Ataxia-Telangiectasia-Like Disorder 2
Muscle weakness, Conjunctival telangiectasia, Flexion contracture, Ataxia, Unsteady gait, Progres... OMIM:615919
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, R... ORPHA:486815
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Triceps weakness... ORPHA:98913
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Gait disturbance, Kyphosis, Ataxia, Distal muscle weakness, Skeletal muscle atrophy ORPHA:101078
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Ataxia, Proximal muscle weakness, Distal muscle weakness, Ptosis, Weakn... OMIM:618637
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Fatigable weakness of respiratory muscles, Increased intramyoce... ORPHA:681
Nemaline Myopathy 8
Muscle weakness, Flexion contracture, Facial palsy, Nemaline bodies, Myofibrillar myopathy, Ophth... OMIM:615348
Typical Nemaline Myopathy
Scoliosis, Arthrogryposis multiplex congenita, Waddling gait, Short neck, Limb-girdle muscle weak... ORPHA:171436
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Amyotrophic Lateral Sclerosis 8
Distal muscle weakness, Progressive muscle weakness, Skeletal muscle atrophy, Proximal muscle wea... OMIM:608627
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Salih Myopathy
Scoliosis, Centrally nucleated skeletal muscle fibers, Flexion contracture, Generalized muscle we... OMIM:611705
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Progressive distal muscle weakness, Lower limb muscle weakness, Pro... ORPHA:397744
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Scoliosis, Dystonia, Arthrogryposis multiplex congenita, Short neck, Difficult... OMIM:611890
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness, Congenital muscular dystrophy OMIM:254100
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Centrally nucleated skeletal muscle fibers, Central core regions in... ORPHA:401768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, EMG: myopathic abnormalities, Macroglossia, Shoulder girdle muscle atro... OMIM:606612
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Flexion contracture, Increased variability in muscle... OMIM:616470
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Gowers sign, Gene... OMIM:609560
Myopathy, Myofibrillar, 7
Muscle weakness, Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, A... OMIM:617114
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Gait disturbance, Ptosis, Kyphosis ORPHA:1875
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Spastic gait, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Scapuloperoneal weakness, Centrally nucleated skeletal muscle fiber... OMIM:255160
Motor Neuropathy, Peripheral, With Dysautonomia
Progressive muscle weakness, Achalasia, Skeletal muscle atrophy OMIM:252320
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Muscle weakness, Ptosis, Ophthalmoplegia, Abnormal mitochondria in muscle tissue OMIM:258470
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Ptosis, Dysmetria OMIM:610743
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal muscle weakne... OMIM:161800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Pr... ORPHA:1145
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, Fatigable w... OMIM:254210
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Progressive muscle weakness, Generalized limb muscle atrophy, Distichiasis, Delayed puberty OMIM:600462
Insulin-Like Growth Factor I Deficiency
Intrauterine growth retardation, Ptosis, Short stature, Hyperactivity OMIM:608747
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency due to muscl... OMIM:608931
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Proximal muscle weakness, Distal muscle weakness, Distal amyotrophy, Kyphoscoliosis, Steppage gai... OMIM:605588
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Central Core Disease
Central core regions in muscle fibers, Respiratory insufficiency due to muscle weakness, Pelvic g... ORPHA:597
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Respiratory insufficiency due to muscle weakness, Fatigable weakness, Type ... OMIM:605809
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Scapular winging, Proximal muscle weakness, Progressive external ophthalmoplegia, Facial palsy, P... OMIM:617069
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Scapular winging, Scapular muscle atrophy, Peroneal muscle atrophy, Pro... OMIM:181405
Arts Syndrome
Progressive muscle weakness, Ataxia, Growth delay OMIM:301835
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Neck muscle weakness, Ptosis, Gowers sign, Ophthalmoplegia, Facial palsy OMIM:616325
Triosephosphate Isomerase Deficiency
Muscle weakness, Dystonia, Kyphosis, Respiratory insufficiency due to muscle weakness, Unsteady g... OMIM:615512
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... OMIM:617066
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Muscle weakness, Increased muscle glycogen content, Macroglossia, Increased muscle lipid content,... ORPHA:254864
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Flexion contracture, Generalized amyotrophy, Spinal rigidity, Myopathy OMIM:618323
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Viral infection-induced rhabdomyolysis, Lower limb muscle weakness, Limb-girdle muscle atrophy, A... ORPHA:329314
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Neck muscle weakness, Muscle weakness, Ptosis, Facial palsy, Ophthalmoplegia OMIM:616324
Chronic Hiccup
Abnormal eating behavior, Abnormality of the diaphragm, Weight loss ORPHA:396
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Myopathy, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Gait disturbance, Kyphosis, Ataxia, Distal lower limb amyotrophy, Distal upper limb am... ORPHA:101075
Deafness, X-Linked 7
Thick eyebrow, Ptosis, Telecanthus OMIM:301018
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Congenital muscular dystro... ORPHA:370980
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Muscle weakness, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Myopathy, Congenital, Bailey-Bloch
Muscle weakness, Blepharophimosis, Flexion contracture, Short palpebral fissure, Ptosis, Skeletal... OMIM:255995
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Akinesia, Increased variability in muscle fi... OMIM:619334
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Increased endomysial connective tissue, ... ORPHA:178148
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98863
Congenital Fiber-Type Disproportion Myopathy
Scoliosis, Pelvic girdle muscle weakness, Generalized muscle weakness, Shoulder girdle muscle wea... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers OMIM:616794
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Scoliosis, Fatigable weakness of respiratory muscles, Limb dysmetria, Loss of ability to walk, Re... ORPHA:329336
Cap Myopathy
Abnormal muscle fiber morphology, Fatiguable weakness of proximal limb muscles, Lower limb muscle... ORPHA:171881
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Epicanthus, Short stature, Hyperactivity ORPHA:85288
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Arthrogryposis, Distal, Type 2B3
Scoliosis, Camptodactyly, Ptosis, Short stature, Downslanted palpebral fissures OMIM:618436
Infantile Refsum Disease
Progressive muscle weakness, Facial palsy, Short stature, Ataxia ORPHA:772
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Gowers sign, Right ventricular hypertrophy, Calf muscle ... OMIM:253700
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Generalize... ORPHA:171433
Mitochondrial Complex I Deficiency, Nuclear Type 25
Intrauterine growth retardation, Myopathy, Nemaline bodies OMIM:618246
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Kyphosis, Ataxia, Lumbar hyperlordosis, Waddling gait, Sh... OMIM:616756
2p15-16.1 microdeletion syndrome
Downslanted palpebral fissures, Camptodactyly of finger, Ptosis, Telecanthus DECIPHER:70
Immunoneurologic Disorder, X-Linked
Neonatal death, Progressive proximal muscle weakness OMIM:300076
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle weakness, EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rha... ORPHA:57
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Progressive exter... OMIM:258450
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Scoliosis, Truncal ataxia, Difficulty walking, Limb-girdle muscular dystrophy, Myopathy, Progress... ORPHA:369847
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98853
Charcot-Marie-Tooth Disease Type 1A
Gait disturbance, Distal muscle weakness, Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle hy... ORPHA:101081
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness, Congenital ptosis, External ophthalmoplegia, Proximal muscle weakness OMIM:254190
Myasthenic Syndrome, Congenital, 19
Facial palsy, Ptosis, Spinal rigidity, Poor head control, Bulbar palsy OMIM:616720
Mental Retardation, Autosomal Dominant 26
Scoliosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Kyphosis, Thick eyebrow, Sh... OMIM:615834
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Neck muscle weakness, Muscle weakness, Ptosis, Facial palsy, Ophthalmoplegia OMIM:616322
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis, Severe short stature ORPHA:2997
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Scoliosis, Skeletal muscle hypertrophy, Gait disturbance, Kyphosis, Ataxia ORPHA:99014
Mental Retardation, Autosomal Dominant 57
Scoliosis, Blepharophimosis, Kyphosis, Upslanted palpebral fissure, Toe walking, Epicanthus, Ptos... OMIM:618050
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscle weakness, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Proximal muscle wea... OMIM:615352
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis multiplex congenita, Centrally nucleated skeletal muscle fibers, Flexion contractu... OMIM:618484
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Resp... OMIM:301830
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Difficulty walking, Congenital muscular dystrophy, Kyphos... OMIM:607155
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Thick eyebrow, Ptosis, Knee flexion contracture, Sho... OMIM:606242
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Autosomal Dominant Spastic Ataxia Type 1
Dystonia, Abnormal eyelid morphology, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Difficul... ORPHA:251282
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets, Proximal muscle weakness OMIM:612016
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Facial palsy, Generalized amyotrophy, D... OMIM:617519
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Muscle weakness, Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Ataxia... OMIM:252011
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Ptosis, Facial palsy, Ophthalmoplegia, Knee flexion contracture OMIM:617239
X-Linked Centronuclear Myopathy
Scoliosis, External ophthalmoplegia, Gait disturbance, Ptosis, Skeletal muscle atrophy ORPHA:596
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Muscle weakness, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture... OMIM:616867
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Flexion contracture, Facial palsy, Ophthalmoplegia, Ptosis, Skeletal muscle atrophy, Myopathy OMIM:616313
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Progressive muscle weakness, Facial palsy, Ptosis, Limb mus... OMIM:610131
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia ORPHA:480
Myasthenic Syndrome, Congenital, 22
Muscle weakness, Ptosis, Waddling gait, Short stature OMIM:616224
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Respiratory insuf... OMIM:254090
Fazio-Londe Disease
Diaphragmatic weakness, Facial diplegia, Bulbar palsy, Ptosis OMIM:211500
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Progressive muscle weakness, Ataxia OMIM:607426
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98855
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Proximal muscle weakness, Distal muscle weakness, Generalized amyot... ORPHA:52430
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Epicanthus, Short stature, Hyperactivity OMIM:300434
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Scoliosis, Growth delay, Ptosis, Proximal muscle weakness OMIM:615895
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, External ophthalmoplegia, Ragged-red muscle fibers, Ataxi... ORPHA:254886
Bifid Nose, Autosomal Dominant
Ptosis OMIM:109740
Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Ataxia, Proximal muscle weakness, Ptosis, Ophthalmoplegia OMIM:615673
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Dystonia, Kyphosis, Anterior beaking of lumbar vertebrae, Short stature... OMIM:230650
Myopathy, Myofibrillar, 8
Neck muscle weakness, Muscle weakness, Scoliosis, Scapular winging, Centrally nucleated skeletal ... OMIM:617258
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, Ectropion, Difficulty wa... ORPHA:98907
Spastic Ataxia 5, Autosomal Recessive
Muscle weakness, Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic... OMIM:614487
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Disproportionate short-trunk short stature, Intervertebral space ... OMIM:271530
Myopathy, Congenital, Progressive, With Scoliosis
Muscle weakness, Scoliosis, Facial hypotonia, Gait disturbance, Congenital contracture, Respirato... OMIM:618578
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Skeleta... OMIM:616812
Combined Oxidative Phosphorylation Deficiency 20
Ptosis, Ataxia, Progressive external ophthalmoplegia OMIM:615917
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Delayed puberty, Distichiasis, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Distal upper limb muscle weakness, Proximal muscle weakness, Distal muscle wea... ORPHA:99950
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Fatigable weakness of skeletal muscles, Proximal amyotrophy, Limb-girdle muscul... ORPHA:206559
Cdkl5-Deficiency Disorder
Scoliosis, Difficulty walking, Gait disturbance, Growth delay, Kyphosis, Synophrys, Poor head con... ORPHA:505652
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Muscle weakness, Scoliosis, Gait disturbance, Kyphosis, Ataxia, Synophrys ORPHA:85317
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Muscle weakness, External ophthalmoplegia, Ataxia, Progressive external ophthalmoplegia, Unsteady... OMIM:616479
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Respiratory insufficiency d... ORPHA:600
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Limb-girdle muscular dystrophy, Proximal muscle weakness, Myopathy, Muscle fi... ORPHA:369840
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:329478
Whistling Face Syndrome, Recessive Form
Blepharophimosis, Camptodactyly, Epicanthus, Short palpebral fissure, Ptosis, Knee flexion contra... OMIM:277720
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Distal amyotrophy, Ptosis ORPHA:3454
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Long eyelashes, Ataxia, Dysme... ORPHA:48431
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Scoliosis, Dystonia, Difficulty walking, Oculogyric crisis, Skeletal muscle at... ORPHA:330050
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cervical spinal canal stenosis, Blepharophimosis, Scheuermann-like vertebral changes, ... OMIM:301900
Brachyolmia Type 1, Toledo Type
Childhood-onset short-trunk short stature, Gait disturbance, Back pain, Irregular vertebral endpl... OMIM:271630
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Ptosis, Ophthalmoparesis OMIM:610246
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:616323
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Facial palsy OMIM:617732
Myasthenic Syndrome, Congenital, 20, Presynaptic
Neck muscle weakness, Muscle weakness, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, P... OMIM:617143
Arthrogryposis, Distal, Type 7
Ptosis, Distal arthrogryposis, Arthrogryposis multiplex congenita, Short stature OMIM:158300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Neck muscle weakness, Ataxia, Proximal muscle weakness, Progressive external ophthalmoplegia, Pto... OMIM:618098
Microcephaly 16, Primary, Autosomal Recessive
Ptosis, Telecanthus, Knee flexion contracture, Short stature OMIM:616681
Hypokalemic Periodic Paralysis, Type 1
Muscle weakness, Myopathy, Episodic flaccid weakness OMIM:170400
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Kyphosis, Upslanted palpebr... ORPHA:352490
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Waddling gait, Short stature OMIM:618392
Coffin-Siris Syndrome 8
Scoliosis, Long eyelashes, Thick eyebrow, Ptosis, Hyperactivity OMIM:618362
Neutral Lipid Storage Myopathy
Neck muscle weakness, Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intra... ORPHA:98908
Richieri Costa-Da Silva Syndrome
Inability to walk, Decreased muscle mass, Beaking of vertebral bodies, Skeletal muscle hypertroph... ORPHA:3101
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Fatiguable weakness of proximal limb muscles, Pro... ORPHA:206569
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Camptodactyly of finger, Nonprogressive restrictive external ophthalmoplegia, Congenital fibrosis... OMIM:600638
Amyotrophy, Hereditary Neuralgic
Muscle weakness, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Ptosis, Short stature... OMIM:162100
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Progressive truncal ataxia, Progressive gait ataxia, Difficulty walking, Grow... ORPHA:363429
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Kyphosis, Respiratory insufficiency due to muscle weakness, Progressive... ORPHA:352447
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Muscle weakness, Increased muscle glycogen content, Rhabdomyolysis, Glycogen accumulation in musc... ORPHA:368
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Waddling gait, Decreased cervical spine... OMIM:310300
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Scoliosis, Macroglossia, Diastasis recti, Upslanted palpebral fissure, Epicant... ORPHA:488632
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Muscle weakness, Growth delay, Rhabdomyolysis, Progressive muscle weakness, Delayed puberty, Skel... ORPHA:370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscle weakness, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan OMIM:615350
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Highly arched eyebrow, Growth delay, Ptosis, Short stature ORPHA:438178
Spinocerebellar Ataxia Type 28
Dystonia, Gait ataxia, Limb ataxia, Ptosis, Limb dystonia, Ophthalmoparesis ORPHA:101109
Hypertrichosis Cubiti
Abnormal eyelid morphology, Rhizomelia, Abnormal eyelash morphology, Severe short stature, Abnorm... ORPHA:2220
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Muscle weakness, EMG: myopathic abnormalities, Highly arched eyebrow, Ptosis, Ophthalmoplegia, Sh... ORPHA:457365
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Kyphosis, Progressive external ophthalmoplegia, Spinal rigidity, Facial pals... OMIM:615084
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Long eyelashes, Synophrys, Thick eyebrow, Short stature, Short neck OMIM:616455
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Wernicke-Korsakoff Syndrome
Ptosis, Ophthalmoplegia, Ataxia OMIM:277730
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Congenital Myasthenic Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Toe walki... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Toe walki... ORPHA:98914
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Short stature, Vertebral segme... OMIM:609813
Mcdonough Syndrome
Scoliosis, Kyphosis, Synophrys, Short palpebral fissure, Ptosis, Short stature, Aplasia/Hypoplasi... ORPHA:2471
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Muscle weakness, Ataxia, Ptosis, Ophthalmoplegia, Dysmetria OMIM:618170
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Oculomotor nerve palsy, Ptosis, Facial palsy, Ophthalmoplegia, Ophthalmoparesis ORPHA:2743
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Respiratory insuffi... OMIM:618291
Synaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Muscle weakness, Scoliosis, Hand muscle weakness, Scapular winging, Proxima... ORPHA:98915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscle weakness, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hypoglyc... OMIM:615351
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Masa Syndrome
Hyperlordosis, Kyphosis, Short stature, Shuffling gait OMIM:303350
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Upslanted palpebral fissure, Synophrys, Thick eyebrow, Downslanted palpebral fissures, ... OMIM:617061
Mitochondrial Myopathy With Lactic Acidosis
Muscle weakness, Dystonia, Growth delay, Toe walking, Postnatal growth retardation, Proximal musc... OMIM:251950
Mitochondrial Complex I Deficiency, Nuclear Type 16
Scoliosis, Dystonia, Aplasia of the left hemidiaphragm, Ptosis, Intrauterine growth retardation OMIM:618238
Glycogen Storage Disease Due To Acid Maltase Deficiency
Muscle weakness, Inability to walk, Scoliosis, Fatigable weakness of respiratory muscles, Fatigab... ORPHA:365
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Nemaline bodies, P... OMIM:616549
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Lethargy, Internally nucleated skeletal muscle fibers ORPHA:324581
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Flexion contracture, External ophthalmoplegia, Increased variability in muscle fibe... OMIM:619026
Sandhoff Disease
Muscle weakness, Kyphosis, Ataxia ORPHA:796
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Gait ataxia, Limb dysmetria, Ptosis, Dysmetria ORPHA:324262
Combined Oxidative Phosphorylation Defect Type 13
Muscle weakness, Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atr... ORPHA:319514
Segawa Syndrome, Autosomal Recessive
Ptosis, Gait ataxia, Limb dystonia OMIM:605407
Trismus-Pseudocamptodactyly Syndrome
Ptosis, Short stature ORPHA:3377
Chromosome 8Q21.11 Deletion Syndrome
Blepharophimosis, Camptodactyly, Epicanthus, Short palpebral fissure, Ptosis, Downslanted palpebr... OMIM:614230
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Scoliosis, Kyphosis, Upslanted palpebral fissure, Ataxia, Unsteady gait, Short... OMIM:618443
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ptosis, Bulbar palsy, Ataxia, Proximal muscle weakness OMIM:615911
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Gait disturbance, Kyphosis, Synophrys, Thick eyebrow ORPHA:2429
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Muscle weakness, Dystonia, Hypomimic face, Growth delay, Bradykinesia, Oculogyric crisis, Limb hy... ORPHA:70594
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, External ophthalmoplegia, Increased variability in muscle fiber dia... OMIM:164310
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Lower limb muscle weakness, Ataxia, Abnormal mitochondria in muscle... ORPHA:313772
Brown-Vialetto-Van Laere Syndrome 1
Neck muscle weakness, Scoliosis, External ophthalmoplegia, Kyphosis, Ataxia, Proximal muscle weak... OMIM:211530
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Arthrogryposis, Distal, Type 5
Scoliosis, Arthrogryposis multiplex congenita, Decreased muscle mass, Congenital finger flexion c... OMIM:108145
Bruck Syndrome 1
Scoliosis, Platyspondyly, Kyphosis, Pterygium, Short stature, Knee flexion contracture, Hip contr... OMIM:259450
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Scoliosis, Torticollis, Ptosis, External ophthalmoplegia OMIM:618155
Fetal Akinesia Deformation Sequence 4
Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Camptodactyly, Skeletal muscle... OMIM:618393
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Downslanted palpebral fissures, Short stature ORPHA:276630
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Ptosis, Epicanthus, Horizontal eyebrow OMIM:619311
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Limb dysmetria, Kyphosis, Lower limb muscle weakness, Spastic gait, Limb muscle weakne... OMIM:614409
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Long eyelashes, Postnatal growth retardation, Synophrys, Thick eyebrow, Pt... OMIM:300590
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Shoulder girdle muscle weakness, Distal muscle ... OMIM:606070
Shashi-Pena Syndrome
Scoliosis, Highly arched eyebrow, Kyphosis, Ptosis OMIM:617190
Adult Intestinal Botulism
Muscle weakness, Ptosis, Diaphragmatic paralysis, Respiratory insufficiency due to muscle weakness ORPHA:178487
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... ORPHA:502423
Jaberi-Elahi Syndrome
Inability to walk, Scoliosis, Dystonia, Gait ataxia, Sparse eyebrow, Kyphosis, Distal muscle weak... OMIM:617988
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Mild short stature, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the... ORPHA:93315
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Muscular dystrophy, Progressive distal muscular atrophy, Ataxia, Distal lower limb musc... ORPHA:459033
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Arthrogryposis multiplex congenita, Scapular winging, Camptodactyly, Flexion contracture, Distal ... OMIM:617468
Ck Syndrome
Scoliosis, Hyperlordosis, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Kyphosis,... OMIM:300831
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Ophthalmoplegia, Left ventricular hypertrophy OMIM:540000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Myopathy OMIM:618234
Hemifacial Atrophy, Progressive
Kyphosis, Blepharophimosis, Ataxia, Horner syndrome OMIM:141300
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Gait ataxia, Ataxia, Ptosis, Dysmetria, Short stature OMIM:614831
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness, Skeletal muscle atrophy OMIM:254950
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly... OMIM:114300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Growth delay, Progressive muscle weakness, Delayed puberty, Skeletal muscle atrophy, Short statur... ORPHA:264580
Wieacker-Wolff Syndrome
Muscle weakness, Scoliosis, Dystonia, Hyperlordosis, Arthrogryposis multiplex congenita, Congenit... OMIM:314580
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Difficulty walking, Lower limb muscle weakness, Ataxia, Impaired tandem gait, ... ORPHA:254930
Myofibrillar Myopathy 10
Muscle weakness, EMG: myopathic abnormalities, Flexion contracture of finger, Kyphosis, Left vent... OMIM:619040
Proximal Xq28 Duplication Syndrome
Blepharophimosis, Gait disturbance, Epicanthus, Ptosis, Short stature ORPHA:1762
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Shoulder girdle muscle weakness, Abdominal w... ORPHA:263297
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Difficulty walking, Limb ataxia, Ataxia, D... OMIM:617675
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Hypomimic face, Gait disturbance, Ataxia, Oculogyric crisis, Ptosis... ORPHA:352649
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Blepharophimosis, Synophrys, Thick eyebrow, Frontalis muscle weakness, Ptosis, Weak extraocular m... OMIM:210745
Combined Oxidative Phosphorylation Deficiency 7
Muscle weakness, Ataxia, Ptosis, Ophthalmoplegia, Skeletal muscle atrophy, Facial diplegia OMIM:613559
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Gait disturbance, Kyphosis, Lower limb muscle weakness, Ataxia, Ptosis, Dysmetria, Arm... ORPHA:88644
Spastic Paraplegia 53, Autosomal Recessive
Dystonia, Gait disturbance, Kyphosis, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Bradykinesia, Ptosis, Ophthalmoplegia, Ragged-red muscle fibers OMIM:614924
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Severe short stature, Thoracolumbar scoliosis, Knee flexion contracture,... OMIM:313420
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Scoliosis, Epicanthus, Delayed puberty, Ptosis, Short stature ORPHA:1825
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle weakness, Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, External ophthalmoplegia, Centrally nucleated skeletal muscle fiber... ORPHA:169189
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Lower limb muscle weakness, Ptosis, Steppage gait, Facial diplegia, Generalized limb muscle atrop... ORPHA:521411
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Progressive external ophthalmoplegia, Proximal muscle weakness, Muscle fiber necrosis, Ragged-red... OMIM:607459
Trisomy 5P
Scoliosis, Ptosis, Short stature ORPHA:1742
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle weakness, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture... OMIM:616866
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hypertonia, Upper limb muscle we... ORPHA:99013
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Decreased mu... OMIM:615065
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis, Lethargy, Ophthalmoplegia, Ataxia OMIM:618225
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal upper limb muscle weakness, Fiber type grouping, Thenar muscle... OMIM:500013
Myasthenic Syndrome, Congenital, 24, Presynaptic
Muscle weakness, Camptodactyly, Ptosis, Ophthalmoplegia, Knee flexion contracture OMIM:618198
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Muscle weakness, Macroglossia, Difficulty walking, Rhabdomyolysis, Ptosis OMIM:251900
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Synophrys, Ataxia, Unsteady gait OMIM:300861
Mental Retardation, Autosomal Dominant 29
Synophrys, Ptosis, Downslanted palpebral fissures, Attention deficit hyperactivity disorder OMIM:616078
Riboflavin Transporter Deficiency
Muscle weakness, Limb muscle weakness, Ataxia, Facial palsy, Ptosis, Skeletal muscle atrophy, Bul... ORPHA:97229
Fibrosis Of Extraocular Muscles, Congenital, 1
Restrictive external ophthalmoplegia, Congenital fibrosis of extraocular muscles, Superior rectus... OMIM:135700
Rare Non-Syndromic Intellectual Disability
Difficulty walking, Dystonia, Ptosis ORPHA:101685
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Muscle weakness, Ragged-red muscle fibers, Ophthalmoparesis, Progressive external ophthalmoplegia ORPHA:1349
Schwartz-Jampel Syndrome, Type 1
Muscle weakness, Platyspondyly, Shoulder flexion contracture, Coronal cleft vertebrae, Blepharoph... OMIM:255800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Camptodactyly, Spondylolisthesi... OMIM:178110
Widow'S Peak Syndrome
Kyphosis, Ptosis, Mild short stature, Short stature OMIM:314570
Sialidosis Type 2
Muscle weakness, Kyphosis, Flexion contracture, Ataxia, Short stature, Skeletal muscle atrophy ORPHA:87876
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportionate short-trunk sh... OMIM:277300
Microphthalmia, Syndromic 13
Ptosis, Short stature, Kyphoscoliosis OMIM:300915
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Camptodactyly of toe, Difficulty walking, Marked muscular hypertrophy, Kyphosis, Synop... OMIM:300280
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Inability to walk, Kyphosis, Flexion contracture, Achilles tendon contracture, Distal ... OMIM:301041
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Facial... ORPHA:171430
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Kyphosi... OMIM:156530
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Short stature, Skeletal muscle atrophy, Ophthalmo... ORPHA:3068
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Kyphosis, Flexion contracture, Intrauterine growth retardation, Myopathy OMIM:618237
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Torsion dystonia, Kyphosis, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Distal Trisomy 15Q
Camptodactyly of finger, Blepharophimosis, Congenital muscular torticollis, Ptosis, Intrauterine ... ORPHA:1707
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Leg muscle stiffness, Progressive gait ataxia, Limb ataxia, Progressive cerebella... ORPHA:284289
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Kyphosis, Upslanted palpebral fissure, Sacral dimple, Synophrys, Ptosis... OMIM:615761
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis, Ophthalmoplegia OMIM:258400
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the vertebral ... ORPHA:2064
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Difficulty walking, Macroglossia, Downslanted palpebral fissures, Kyphoscoliosis OMIM:227250
Native American Myopathy
Muscle weakness, Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnor... ORPHA:168572
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Dystonia, Difficulty walking, Kyphosis, Absent pubertal growth spurt, Ataxia, Unsteady... ORPHA:464282
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Dystonia, Flexion contracture, Ptosis, Kyphoscoliosis OMIM:617664
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Blepharophimosis, Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Ptosis ORPHA:126
Carey-Fineman-Ziter Syndrome
Scoliosis, Oculomotor nerve palsy, Growth delay, Flexion contracture, Epicanthus, Pectoralis hypo... OMIM:254940
Legius Syndrome
Epicanthus, Ptosis, Downslanted palpebral fissures, Short neck, Attention deficit hyperactivity d... OMIM:611431
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Truncal ataxia, Leg muscle stiffness, Spastic ataxia, Difficulty walking, Flexion contracture, Di... ORPHA:137898
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy OMIM:159400
Myopathy With Lactic Acidosis, Hereditary
Muscle weakness, Myopathy, Rhabdomyolysis, Increased intramyocellular lipid droplets OMIM:255125
Spinocerebellar Ataxia 36
Muscle weakness, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Ptosis, Skeletal muscle atrophy OMIM:614153
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Blepharophimosis, Growth delay, Camptodactyly, Ptosis, Short stature, Intrauterine growth retarda... OMIM:617333
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Ptosis, Epicanthus, Short stature ORPHA:1373
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Ptosis, Generalized dystonia, Foc... ORPHA:101150
3Mc Syndrome
Scoliosis, Hyperlordosis, Diastasis recti, Highly arched eyebrow, Blepharophimosis, Postnatal gro... ORPHA:293843
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Flexion contracture, Cervical kyphosis, Ptosis, Short stature, Short neck OMIM:245160
Kleefstra Syndrome 2
Scoliosis, Growth delay, Thick eyebrow, Kyphosis OMIM:617768
Baralle-Macken Syndrome
Inability to walk, Dystonia, Kyphosis, Upslanted palpebral fissure OMIM:619255
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Ophthalmoparesis, Proxi... ORPHA:70595
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Kyphosis, Epicanthus, Irregular vertebral endplates, Intrauterine growt... OMIM:234250
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Growth delay, Ptosis OMIM:616154
Retinal Dystrophy With Leukodystrophy
Proximal muscle weakness, Gowers sign, Waddling gait, Falls, Dysmetria, Bilateral ptosis OMIM:618863
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Gait ataxia, Ptosis, Progressive external ophthalmoplegia OMIM:613077
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Abdominal wall muscle weakness, Ptosis, Short stature ORPHA:638
Frontotemporal Dementia With Motor Neuron Disease
Proximal muscle weakness, Distal muscle weakness, Progressive cerebellar ataxia, Generalized amyo... ORPHA:275872
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Macroglossia, Kyphosis, Achalasia, Generalized dystonia, Short stature ORPHA:79107
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Oculomotor nerve palsy, Fatigable weakness, Ptosis, Ophthalmoplegia, Myopathy, Muscle flaccidity,... ORPHA:257
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Scoliosis, Facial hypotonia, Epicanthus, Ptosis, Intrauterine growth retardati... OMIM:616801
Non-Distal Monosomy 10Q
Upslanted palpebral fissure, Gait disturbance, Epicanthus, Ataxia, Synophrys, Ptosis ORPHA:1581
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Blepharophimosis, Synophrys, Thick eyebrow, Ptosis, Short stature ORPHA:2057
Lopes-Maciel-Rodan Syndrome
Scoliosis, Dystonia, Kyphosis, Bradykinesia, Unsteady gait OMIM:617435
Arthrogryposis, Distal, Type 2A
Muscle weakness, Scoliosis, Shoulder flexion contracture, Restricted neck movement due to contrac... OMIM:193700
Joubert Syndrome 26
Ptosis, Short stature OMIM:616784
Glycogen Storage Disease Vii
Muscle weakness, Increased muscle glycogen content OMIM:232800
X-Linked Dominant Chondrodysplasia Punctata
Abnormal vertebral morphology, Rhizomelia, Kyphosis, Epicanthus, Ptosis, Short stature ORPHA:35173
Bruck Syndrome
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Kyphosis, Pterygium, Short stature ORPHA:2771
Ophthalmoplegia, Familial Total, With Iris Transillumination
Total ophthalmoplegia, Internal ophthalmoplegia, Ptosis, External ophthalmoplegia OMIM:165098
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis, Short stature ORPHA:2786
Cleft Pal