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
Proximal muscle weakness, Foot dorsiflexor weakness, Increased variability in muscle fiber diamet... OMIM:618655
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal muscle weak... OMIM:605820
Inclusion Body Myositis
Proximal muscle weakness, Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fiber... ORPHA:611
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Rhabdomyolysis, Progressive muscle weakness, Progressive... ORPHA:399096
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Welander Distal Myopathy
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Inclusion Body Myositis
Distal muscle weakness, Inflammatory myopathy, Rimmed vacuoles, Proximal muscle weakness OMIM:147421
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Neck muscle weakness, Weakness of facial musculature, ... OMIM:619477
Hereditary Myopathy With Early Respiratory Failure
Proximal muscle weakness, Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle at... ORPHA:178464
Laing Early-Onset Distal Myopathy
Minicore myopathy, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, EMG: myopa... ORPHA:59135
Myasthenic Syndrome, Congenital, 13
Ptosis, Muscle fiber tubular inclusions, Fatigable weakness, Scoliosis, Proximal muscle weakness OMIM:614750
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Increased variability... OMIM:300717
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Axial muscle weakness, Limb-girdle muscle weakness, Increased variabil... ORPHA:399058
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:254110
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Proximal muscle weakness in upper limbs, Weakness of the intrinsic hand mus... ORPHA:98912
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Oculopharyngeal Muscular Dystrophy
Progressive ptosis, Limb muscle weakness, Neck muscle weakness, Distal muscle weakness, Gait dist... OMIM:164300
Desminopathy
Thoracic kyphoscoliosis, Axial muscle weakness, Loss of ability to walk, Fatigable weakness of bu... ORPHA:98909
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Proximal muscle weakness, Progressive distal muscle weakness, Distal... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Myopathy, Myofibrillar, 5
Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Mus... OMIM:609524
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myasthenic Syndrome, Congenital, 15
Fatigable weakness, Difficulty walking, Multiple joint contractures, Ptosis OMIM:616227
Myasthenic Syndrome, Congenital, 18
Flexion contracture, Ataxia, Ptosis, Muscle weakness, Difficulty walking OMIM:616330
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Progre... ORPHA:98911
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weak extraocular muscles, Increased variability in muscle fiber diameter, Type 1 muscle fiber pre... OMIM:618654
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Myopathy, Proximal, With Ophthalmoplegia
Proximal muscle weakness, Ophthalmoplegia, Ptosis, Neck muscle weakness, Muscle fiber inclusion b... OMIM:605637
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Myopathy, Myofibrillar, 4
Muscle fiber splitting, EMG: myopathic abnormalities, Progressive muscle weakness, Autophagic vac... OMIM:609452
Nemaline Myopathy 6
Nemaline bodies, Neck flexor weakness, Myopathy, Limb muscle weakness OMIM:609273
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy... ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: ... OMIM:253601
Zebra Body Myopathy
Proximal muscle weakness, Nemaline bodies, Axial muscle weakness, Limb-girdle muscular dystrophy,... ORPHA:97240
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Foot dorsiflexor weakness, Kyphosis, Respiratory insufficiency due to muscle weakness, Scoliosis,... OMIM:617087
Bethlem Myopathy
Axial muscle weakness, Gowers sign, Muscle weakness, Reduced muscle collagen VI, Scoliosis, Scapu... ORPHA:610
Myasthenic Syndrome, Congenital, 23, Presynaptic
Neck muscle weakness, Muscle weakness, Ptosis, Calf muscle hypertrophy OMIM:618197
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Moderate Multiminicore Disease With Hand Involvement
Axial muscle weakness, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 m... ORPHA:178145
Duchenne Muscular Dystrophy
Flexion contracture, Skeletal muscle atrophy, Progressive muscle weakness, Scoliosis, Proximal mu... ORPHA:98896
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Loss of ability to walk, Abnormality of facial musculatu... ORPHA:98897
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Gowers sign, Increased variability in muscle fiber diameter, Musc... OMIM:612937
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Distal muscle weakness, Ne... OMIM:601846
Myasthenic Syndrome, Congenital, 17
Muscle weakness, Difficulty walking, Ptosis OMIM:616304
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, EMG: myopathic abnormalities, Generalized muscle weakness, Progressive ... OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Late-... OMIM:608423
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Axial muscle weakness, Ragged-red muscle fibers, Ptosis, Respiratory insufficiency due to muscle ... ORPHA:663
Glycogen Storage Disease Ixb
Muscle weakness, Short stature, Increased muscle glycogen content OMIM:261750
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Flexion contracture, Increased endomysial connective tissue, Muscular dystrophy, Ankle flexion co... OMIM:617072
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Proximal muscle weakness, Pelvic girdle muscle weakness, Foot dorsif... OMIM:603689
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Myopathy, Distal, 1
Proximal muscle weakness, Amyotrophy of ankle musculature, Weakness of long finger extensor muscl... OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Gowers sign, Muscular dystrophy, Bulbar palsy, Facia... OMIM:603511
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Proximal amyotrophy, Myopathy, Abdominal wall muscle we... OMIM:618129
Bethlem Myopathy 2
Proximal muscle weakness, Flexion contracture, Increased variability in muscle fiber diameter, Mu... OMIM:616471
Myofibrillar Myopathy 11
Axial muscle weakness, Gowers sign, Shoulder girdle muscle atrophy, Generalized amyotrophy, Incre... OMIM:619178
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Gowers sign, Limb muscle weakness, Gait disturbance, Knee fle... OMIM:610687
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Scapuloperoneal weakness, Proximal muscle weakness, Rimmed... OMIM:300696
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Progressive muscle weakness, Type 1 muscle fiber predominan... OMIM:605355
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Progressive muscle weakness, Type 1 muscle fib... ORPHA:98902
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Muscle weakness, Proximal muscle weakness, Ce... OMIM:613530
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Weakness of orbicularis oculi muscle, Inability t... ORPHA:2596
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Ophthalmoplegia, Abnormal muscle fiber morph... ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Muscle weakness, Distal muscle weakness, Respiratory insuf... ORPHA:254875
Congenital Myopathy With Myasthenic-Like Onset
Proximal muscle weakness, Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormal... ORPHA:424107
Marinesco-Sjogren Syndrome
Flexion contracture, Kyphosis, Skeletal muscle atrophy, Ataxia, Progressive muscle weakness, Gait... OMIM:248800
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Skeletal muscle atrophy, Distal muscle weakness, Rimmed vacuoles, Calf ... OMIM:617760
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Myasthenic Syndrome, Congenital, 10
Gowers sign, Proximal amyotrophy, Ptosis, Bulbar palsy, Fatigable weakness, Respiratory insuffici... OMIM:254300
Myopathy, Centronuclear, 2
Proximal muscle weakness, Flexion contracture, Axial muscle weakness, Ophthalmoplegia, Gowers sig... OMIM:255200
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Ptosis, Lumbar hyperlordosis, Short stature, Myopathy, Facial palsy OMIM:253320
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Difficulty walking, Progressive muscle weakness OMIM:619024
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Calf muscle pseudohypertrop... OMIM:256030
Myasthenic Syndrome, Congenital, 12
Gowers sign, Proximal amyotrophy, Ptosis, Neck muscle weakness, Fatigable weakness, Facial palsy,... OMIM:610542
Myasthenic Syndrome, Congenital, 8
Muscle weakness, Facial palsy, Proximal muscle weakness, Ptosis OMIM:615120
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Scapular winging, Ophthalmoplegia, Gowers sign, Generalized amyotro... ORPHA:169186
Congenital Myasthenic Syndromes With Glycosylation Defect
Proximal muscle weakness, Flexion contracture, Gowers sign, Ragged-red muscle fibers, Limb-girdle... ORPHA:353327
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Proximal muscle weakness, Muscle fiber splitting, Lower limb muscle weakne... OMIM:616924
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal muscle weakness, Distal amyotrophy, Late... OMIM:610099
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, External ophthalmoplegia, Type 1 muscle fiber ... OMIM:160150
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Gowers sign, Reduced muscle fiber alpha dystroglycan, Ankle flexi... ORPHA:280333
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Gowers sign, Proximal muscle weakness in lower limbs, In... OMIM:618138
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Myopathy, Short stature, Type 1 fibers relative... OMIM:300580
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis, Gait disturbance OMIM:611225
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Nemaline Myopathy 1
Proximal muscle weakness, Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, E... OMIM:609284
Nemaline Myopathy 4
Nemaline bodies, Scapular winging, Flexion contracture, Skeletal muscle atrophy, Gowers sign, Lim... OMIM:609285
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Flexion contracture, Kyphosis, Increased variability in muscle fiber diameter, Hyperl... OMIM:300718
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Steppage gait, Hypotrophy of the... OMIM:607684
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities, Steppage gait OMIM:600334
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skel... OMIM:300816
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weakness, Weakness o... ORPHA:641
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Hyperlordosis, Ptosis, Limb muscle weakness, Fatigable weakness, Res... OMIM:603034
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Muscle wea... OMIM:616052
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Gowers sign, Limb-girdle muscle weakness, Ragged-red muscle fibers, Fatigabl... OMIM:616228
Parastremmatic Dwarfism
Short neck, Kyphosis, Flexion contracture, Severe short stature, Scoliosis OMIM:168400
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Short stature, Scoliosis, Skeletal muscle autophagosome accumulation... OMIM:619518
Merrf
Ragged-red muscle fibers, Short stature, Myopathy ORPHA:551
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Progressive muscle weakness, Ptosis, Limb... OMIM:609286
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Growth delay, Progressive muscle weakness, Ptosis, Respiratory insufficie... OMIM:613561
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Gowers sign, Ptosis, Bulbar palsy, Neck muscle weakness, Respiratory... OMIM:608930
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow, Restrictive partial external ophthalmoplegia, Congenital bilater... OMIM:609384
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystr... OMIM:613818
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Congenital muscular dystrophy, Increased endomysial connective tissue, Muscl... OMIM:607855
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Myopathy OMIM:545000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Distal muscle weakness, Progressive external o... OMIM:617070
Myopathy, Distal, 4
Skeletal muscle atrophy, Muscle weakness, Abnormality of the calf musculature, Myopathy, Distal u... OMIM:614065
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis, Flexion contracture, Arthrogryposis multiplex congenita, Gowers sign OMIM:616326
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Gowers sign, Proximal muscle weakness in lower limbs, Growth delay, Ptosis, Short stature, Distal... ORPHA:171706
Congenital Multicore Myopathy With External Ophthalmoplegia
Axial muscle weakness, Abnormal skeletal muscle morphology, Increased variability in muscle fiber... ORPHA:98905
Pure Mitochondrial Myopathy
Proximal muscle weakness, Rhabdomyolysis, Axial muscle weakness, Gowers sign, Loss of ability to ... ORPHA:254854
Oculomotor-Levator Synkinesis
Abnormal eyelid morphology, Eyelid retraction, Ptosis OMIM:151610
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Proximal muscle weakness, Gowers sign, Limb-girdle muscle weakness, Generalized amyotrophy, Muscu... ORPHA:86812
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Right ventricular hypertrophy, Increased endomysial connective tissu... ORPHA:353
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Gowers sign, Limb-girdle muscle weakness, Hyperlordosis, Myopathy, G... ORPHA:352470
Dpm3-Cdg
Muscular dystrophy, Muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Pelvic girdle musc... ORPHA:263494
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Proximal muscle weakness, ... OMIM:618823
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Gowers sign, Limb-girdle muscle weakness, Generalized amyotrophy, External ophthalmoplegia, Ptosi... OMIM:615156
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Proximal lower limb amyotrophy, Hyperlordosis, Knee flexion contracture, Distal muscle ... OMIM:600175
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Axial muscle weakness, Type 1 and type 2 muscle fiber min... OMIM:602771
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dys... ORPHA:34515
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Axial muscle weakness, Skeletal muscle atrophy, Type 1 and ty... OMIM:255320
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Diaphragmatic weakness, Increased endomysial connective tissue, Increased va... ORPHA:75840
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Generalized muscle weakness, Skeletal muscle atrophy ORPHA:238329
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Diaphragmatic weakness, Muscle fiber necrosis, Increased variability in muscle fiber diameter, EM... OMIM:614399
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Broad-based gait, Calf muscle hypertrop... ORPHA:119
Myopathy, Centronuclear, 4
Muscle weakness, Centrally nucleated skeletal muscle fibers OMIM:614807
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Proximal muscle weakness, Thoracic scoliosis, Thoracic kyphosis, Absent muscle dystrophin express... ORPHA:206546
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Neck muscle weakness, Short stature, Myopathy, Increased muscle lipid content, Proxi... OMIM:610717
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy, Fatigable weakness, Intermittent episodes of respiratory insufficien... OMIM:601462
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipid droplets OMIM:619065
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Muscle weakness, Myopathy, Rimmed vacuoles, Muscle fiber atrop... OMIM:615422
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diameter, Facial dipl... ORPHA:171439
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Nemaline bodies, Scapular winging, Gowers sign OMIM:617336
Myopathy, Congenital, With Fiber-Type Disproportion
Bulbar palsy, Limb joint contracture, Respiratory insufficiency due to muscle weakness, Type 1 fi... OMIM:255310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Increas... OMIM:157640
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, External ophthalmoplegia, Ptosis, Fatigable weakness, Gait disturbance OMIM:614198
Ataxia-Telangiectasia-Like Disorder 2
Flexion contracture, Ataxia, Progressive muscle weakness, Unsteady gait, Muscle weakness, Conjunc... OMIM:615919
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Spastic Ataxia 1, Autosomal Dominant
Leg muscle stiffness, Spastic ataxia, Ptosis, Gait disturbance OMIM:108600
Postsynaptic Congenital Myasthenic Syndromes
Abnormality of masticatory muscle, Fatigable weakness of neck muscles, Ptosis, Muscle weakness, S... ORPHA:98913
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Skeletal muscle atrophy, Ataxia, Distal muscle weakness, Scoliosis, Gait disturbance ORPHA:101078
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Ataxia, Ptosis, Distal muscle weakness, Weakness of facial musculature,... OMIM:618637
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Muscle weakness, Facial palsy, Myofibrillar myopathy, Ophth... OMIM:615348
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Typical Nemaline Myopathy
Axial muscle weakness, Increased variability in muscle fiber diameter, Fatiguable weakness of pro... ORPHA:171436
Hypokalemic Periodic Paralysis
Episodic flaccid weakness, Fatigable weakness of respiratory muscles, Respiratory paralysis, Incr... ORPHA:681
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Pelvic girdle amyotrophy, Shoulder girdle muscle atrophy, Limb muscle w... OMIM:167320
Salih Myopathy
Flexion contracture, Ptosis, Scoliosis, Myopathy, Generalized muscle weakness, Facial palsy, Cent... OMIM:611705
Amyotrophic Lateral Sclerosis 8
Distal muscle weakness, Proximal muscle weakness, Progressive muscle weakness, Skeletal muscle at... OMIM:608627
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Congenital muscular dystrophy, Shoulder girdle muscle atro... OMIM:606612
Motor Neuropathy, Peripheral, With Dysautonomia
Achalasia, Progressive muscle weakness, Skeletal muscle atrophy OMIM:252320
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness, Congenital muscular dystrophy OMIM:254100
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Scapu... OMIM:255160
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... OMIM:617114
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis, Kyphosis, Congenital muscular dystrophy, Gait disturbance ORPHA:1875
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Ptosis, Gait ataxia, Scoliosis, Limb ataxia OMIM:610743
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Limb muscle weakness, Type 1 muscle fiber predomin... OMIM:161800
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Muscle weakness, Ophthalmoplegia, Abnormal mitochondria in muscle tissue, Ptosis OMIM:258470
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Generalized limb muscle atrophy, Progressive muscle weakness, Distichiasis OMIM:600462
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Proximal m... ORPHA:401768
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Steppage gait, Upper limb muscle weakness, Distal muscle weakness, Dis... OMIM:605588
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Bulbar palsy, Fatigable weakness, Respiratory insufficiency due to m... OMIM:254210
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Diaphragmatic weakness, Muscle fiber splitting, Gowers sign, Scapuloperoneal amyotrophy... OMIM:181405
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Kyphosis, Skeletal muscle atrophy, Inability to walk, Ptosis, Downslanted palpebral f... OMIM:611890
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Gowers sign, Fatigable weakness, Respirator... OMIM:608931
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Respiratory insuf... ORPHA:597
Arts Syndrome
Growth delay, Ataxia, Progressive muscle weakness OMIM:301835
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Scapular winging, Skeletal muscle atrophy, Ptosis, Progressive external ophthalmoplegia, Facial p... OMIM:617069
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Bulbar palsy, Limb muscle weakness, Fatigable weakness, Respiratory ... OMIM:605809
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Respiratory insufficiency due to muscle weakness, Muscular dystrophy, Centr... OMIM:617066
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Fatigable weakness of bulbar muscles, Fatigable weakness of swal... ORPHA:596
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Macroglossia, Muscle weakness, Myopathy, Increased muscle glycogen cont... ORPHA:254864
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Ptosis, Neck muscle weakness, Facial palsy, Ophthalmoplegia OMIM:616325
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Viral infection-induced rhabdomyolysis, Limb-girdle muscle atrophy, Lower limb muscle weakness, L... ORPHA:329314
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Ataxia, Myopathy, Gait disturbance OMIM:125250
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Gait disturbance, Scoliosis, Distal upper limb amyotrophy, Distal lower limb am... ORPHA:101075
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis, Neck muscle weakness, Muscle weakness, Facial palsy, Ophthalmoplegia OMIM:616324
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Kyphosis, Generalized amyotrophy, Scoliosis, Myopathy, Spinal rigidity OMIM:618323
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Limb-girdle muscle atrophy, Congenital muscular dystrophy, Reduced m... ORPHA:370980
Deafness, X-Linked 7
Thick eyebrow, Telecanthus, Ptosis OMIM:301018
King-Denborough Syndrome
Minicore myopathy, Thoracic kyphosis, Short neck, Ptosis, Type 1 muscle fiber predominance, Downs... OMIM:619542
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Muscle weakness, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Scoliosis, Intercostal muscle weakness, Generalized muscle weakness,... ORPHA:2020
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Ptosis, Absent muscle fi... ORPHA:98863
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Loss of ability to walk, Limb muscle weakness, Fatigable weakness of res... ORPHA:329336
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Poor head control, Loss of ambulation, Ptosis, Generalized muscle weakness OMIM:616321
Myopathy, Congenital, Bailey-Bloch
Short palpebral fissure, Flexion contracture, Skeletal muscle atrophy, Blepharophimosis, Ptosis, ... OMIM:255995
Cap Myopathy
Lower limb amyotrophy, Gowers sign, Lower limb muscle weakness, Generalized amyotrophy, Increased... ORPHA:171881
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers OMIM:616794
Arthrogryposis, Distal, Type 2B3
Ptosis, Downslanted palpebral fissures, Scoliosis, Short stature, Camptodactyly OMIM:618436
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Gowers sign, Muscular dystro... OMIM:253700
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Infantile Refsum Disease
Facial palsy, Short stature, Ataxia, Progressive muscle weakness ORPHA:772
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Scoliosis, Myopathy, Progressive proximal muscle weakness, Trunca... ORPHA:369847
Immunoneurologic Disorder, X-Linked
Neonatal death, Progressive proximal muscle weakness OMIM:300076
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Akinesia, Arthrogryposis multipl... OMIM:619334
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Abnormality of the palpebral fissures, Flexion contracture, Axial muscle weakn... ORPHA:178148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Increased variability in... OMIM:258450
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Gowers sign, Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb... OMIM:609560
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Intrauterine growth retardation, Myopathy OMIM:618246
Charcot-Marie-Tooth Disease Type 1A
Diaphragmatic weakness, Skeletal muscle atrophy, Distal muscle weakness, Gait disturbance, Kyphos... ORPHA:101081
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic abnormalities, Growth d... ORPHA:57
2p15-16.1 microdeletion syndrome
Downslanted palpebral fissures, Camptodactyly of finger, Telecanthus, Ptosis DECIPHER:70
Ptosis-Vocal Cord Paralysis Syndrome
Severe short stature, Ptosis ORPHA:2997
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, EMG: myopathic abnormalities, Type... ORPHA:171433
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Axial ... ORPHA:324604
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Ptosis, Absent muscle fi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Ptosis, Absent muscle fi... ORPHA:98853
Myasthenic Syndrome, Congenital, 19
Ptosis, Bulbar palsy, Poor head control, Spinal rigidity, Facial palsy OMIM:616720
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness, Proximal muscle weakness, External ophthalmoplegia, Congenital ptosis OMIM:254190
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Ataxia, Muscle weakness, Scoliosis, Skeletal muscle hypertrophy, Gait disturbance ORPHA:99014
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis, Neck muscle weakness, Muscle weakness, Facial palsy, Ophthalmoplegia OMIM:616322
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Mus... OMIM:616867
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Pelvic girdle muscle weakness, Kyphosis, Congenital muscular dystrop... OMIM:607155
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Intrauterine growth retardation, Thick eyebrow, Ptosis, Knee flexion contracture, Short stature, ... OMIM:606242
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Gowers sign, Arthrogryposis multiplex congenita, Weakness of facial musculat... OMIM:618484
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Muscular dystrophy, Proximal muscle wea... OMIM:615352
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Generalized amyotrophy, Ankle flexion contracture, Poor head control... OMIM:617519
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Inability to walk, Ataxia, Lumbar hyperlordosis, Short stature, Scoliosis, Waddling gai... OMIM:616756
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Ptosis, Respiratory insufficiency due to muscle... OMIM:301830
Coenzyme Q10 Deficiency, Primary, 4
Proximal muscle weakness, Increased intramyocellular lipid droplets OMIM:612016
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive muscle weakness, Ptosis, Limb muscle weakness, Progressive external ophthalmoplegia, ... OMIM:610131
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Myasthenic Syndrome, Congenital, 21, Presynaptic
Ptosis, Knee flexion contracture, Facial palsy, Ophthalmoplegia, Difficulty walking OMIM:617239
Myasthenic Syndrome, Congenital, 22
Muscle weakness, Short stature, Waddling gait, Ptosis OMIM:616224
Fazio-Londe Disease
Facial diplegia, Diaphragmatic weakness, Ptosis, Bulbar palsy OMIM:211500
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Congenital muscular dystrophy, Muscle fiber necrosis, Generalized amyotrophy... OMIM:254090
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Flexion contracture, Skeletal muscle atrophy, Ptosis, Myopathy, Facial palsy, Ophthalmoplegia OMIM:616313
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fibers, Muscle weakness, S... OMIM:252011
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Hand muscle weakness, Bulbar palsy, Respiratory i... OMIM:606070
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Ataxia, Progressive muscle weakness OMIM:607426
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Camptodactyly, Kyphosis OMIM:618453
Intellectual Developmental Disorder, Autosomal Dominant 57
Upslanted palpebral fissure, Kyphosis, Blepharophimosis, Ptosis, Short stature, Scoliosis, Tip-to... OMIM:618050
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Insulin-Like Growth Factor I Deficiency
Short stature, Intrauterine growth retardation, Ptosis OMIM:608747
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Proximal muscle weakness, Weakness of muscles of respiration, Generalized amyotrophy, Increased v... ORPHA:52430
Myopathy, Congenital, Progressive, With Scoliosis
Facial hypotonia, Skeletal muscle atrophy, Ptosis, Muscle weakness, Respiratory insufficiency due... OMIM:618578
Cdkl5-Deficiency Disorder
Kyphosis, Growth delay, Gait disturbance, Scoliosis, Poor head control, Synophrys, Difficulty wal... ORPHA:505652
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Spastic gait, Ptosis, Abnormal eyelid morphology, Limb ataxia, Spastic atax... ORPHA:251282
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Ataxia, Ptosis, Short stature, Myopathy, Progressive proximal muscl... ORPHA:98907
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Scoliosis, Proximal muscle weakness, Growth delay, Ptosis OMIM:615895
Bifid Nose, Autosomal Dominant
Ptosis OMIM:109740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, P... OMIM:616812
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Proximal muscle weakness, Nemaline bodies, Gowers sign, Generalized ... OMIM:617258
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Intervertebral space narrowing, Disproportionate short-trunk short stature,... OMIM:271530
Combined Oxidative Phosphorylation Deficiency 20
Progressive external ophthalmoplegia, Ataxia, Ptosis OMIM:615917
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Ataxia, Gait disturbance, Muscle weakness, Scoliosis, Synophrys ORPHA:85317
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Scoliosis, Myopathy, Distichiasis, Delayed puberty ORPHA:2598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, External ophthalmoplegia, Ataxia, Unsteady gait, Muscle weakness, Ptosis... OMIM:616479
Charcot-Marie-Tooth Disease Type 4D
Lower limb amyotrophy, Inability to walk, Upper limb amyotrophy, Unsteady gait, Distal upper limb... ORPHA:99950
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Fatigable weakness of skeletal muscles, Limb-girdle muscular dystrophy, Reduced muscle fiber alph... ORPHA:206559
Intellectual Developmental Disorder, Autosomal Dominant 26
Upslanted palpebral fissure, Short palpebral fissure, Kyphosis, Intrauterine growth retardation, ... OMIM:615834
Triosephosphate Isomerase Deficiency
Kyphosis, Skeletal muscle atrophy, Progressive muscle weakness, Unsteady gait, Muscle weakness, R... OMIM:615512
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Ataxia, Downslanted palpebral fissures, Bilateral ptosis, Scoliosis, Hypomimic... OMIM:619701
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Abnormal morphology of musculature of pharynx, Bulbar pal... ORPHA:600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Short stature, Kyphosis ORPHA:85288
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Short neck, Elbow flexion contracture, Blepharophimosis, Ptosis, Knee fl... OMIM:277720
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Kyphosis, Intrauterine growth retardation, Abnormality of the cervical spine, Long eye... ORPHA:48431
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Ptosis, Congenital foot contractures, Scoliosis, Distal amyotrophy ORPHA:3454
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy, Proximal muscle weakness, Muscle fi... ORPHA:369840
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Cervical spinal canal stenosis, Ptosis, Short statu... OMIM:301900
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Ptosis OMIM:617732
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Ptosis, Bulbar palsy, Muscle weakness, Neck muscle weakness, Scoliosis, Arthrogryposis ... OMIM:617143
Autosomal Recessive Progressive External Ophthalmoplegia
Proximal muscle weakness, Shuffling gait, Ragged-red muscle fibers, Hand muscle weakness, Ataxia,... ORPHA:254886
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy,... ORPHA:329478
Brachyolmia Type 1, Toledo Type
Short neck, Intervertebral space narrowing, Childhood-onset short-trunk short stature, Disproport... OMIM:271630
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Ophthalmoparesis OMIM:500003
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616323
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Kyphosis, Waddling gait OMIM:618392
Arthrogryposis, Distal, Type 7
Short stature, Distal arthrogryposis, Ptosis, Arthrogryposis multiplex congenita OMIM:158300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Dysmetria, Ataxia, Ptosis, Neck muscle weakness, Progressive external ophthalmoplegia, Proximal m... OMIM:618098
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Short stature, Ptosis, Knee flexion contracture OMIM:616681
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Dysdiadochokinesis, Skeletal muscle atrophy, Ataxia, Ptosis, Muscle weakness, Increase... OMIM:614487
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Muscle weakness, Myopathy OMIM:170400
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Vertebral wedging, Inability to w... ORPHA:3101
Neutral Lipid Storage Myopathy
Foot dorsiflexor weakness, Gowers sign, Hand muscle weakness, Generalized limb muscle atrophy, Ne... ORPHA:98908
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Congenital fibrosis of extraocular muscles, Superior rectus atrophy, Camptodactyly of finger, Fac... OMIM:600638
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Ragged-red muscle fibers, Generalized amyotrophy, Ptosis, Respiratory insufficiency due... ORPHA:352447
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysmetria, Multiple joint contractures, Growth delay, Ptosis, Progressive cerebellar ataxia, Prog... ORPHA:363429
Immune-Mediated Necrotizing Myopathy
Myositis, Axial muscle weakness, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle ... ORPHA:206569
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Muscle weakness, Progressive proximal muscle weakness, I... ORPHA:368
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness... ORPHA:370
Tbck-Related Intellectual Disability Syndrome
Upslanted palpebral fissure, Short neck, Diastasis recti, Skeletal muscle atrophy, Thick eyebrow,... ORPHA:488632
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Muscular dystrophy OMIM:615350
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Generalized amyotrophy, Proximal amyotrophy, Ptosis, Spinal rigidity, Progressive exter... OMIM:615084
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Growth delay, Ptosis, Highly arched eyebrow, Short stature ORPHA:438178
Amyotrophy, Hereditary Neuralgic
Upslanted palpebral fissure, Skeletal muscle atrophy, Ptosis, Muscle weakness, Short stature, Epi... OMIM:162100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness... ORPHA:79240
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Epicanthus, Short stature, Kyphosis, Scoliosis OMIM:300434
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Kyphosis, Skeletal muscle atrophy, Respiratory insufficiency due to muscle w... OMIM:618291
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities, Ptosis, Highly arched eyebrow, Muscle weakness, Downslanted palpebr... ORPHA:457365
Dk1-Cdg
Short stature, Progressive muscle weakness ORPHA:91131
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Long eyelashes, Thick eyebrow, Macroglossia, Short stature, Synophrys OMIM:616455
Wernicke-Korsakoff Syndrome
Ophthalmoplegia, Ataxia, Ptosis OMIM:277730
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Inability to walk, Bilateral ptosis, Scoliosis, Delayed menarche, Diffic... ORPHA:330050
Hypertrichosis Cubiti
Severe short stature, Thick eyebrow, Abnormal eyelash morphology, Rhizomelia, Ptosis, Downslanted... ORPHA:2220
Congenital Myasthenic Syndrome
Ptosis, Arthrogryposis multiplex congenita, Generalized muscle weakness, Proximal muscle weakness... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Ptosis, Arthrogryposis multiplex congenita, Generalized muscle weakness, Proximal muscle weakness... ORPHA:98914
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Spinocerebellar Ataxia 28
Gait ataxia, Limb ataxia, Ptosis, Ophthalmoparesis OMIM:610246
Gm1-Gangliosidosis, Type Iii
Kyphosis, Skeletal muscle atrophy, Anterior beaking of lumbar vertebrae, Platyspondyly, Short sta... OMIM:230650
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, Proximal muscle weakness, Axial muscle weakness, Skeletal muscle atr... ORPHA:98915
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Oculomotor nerve palsy, Facial palsy, Ophthalmoplegia, Ophthalmoparesis ORPHA:2743
Mcdonough Syndrome
Short palpebral fissure, Kyphosis, Ptosis, Short stature, Scoliosis, Aplasia/Hypoplasia of the ab... ORPHA:2471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Flexion contracture, Congenital muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Musc... OMIM:615351
Masa Syndrome
Short stature, Hyperlordosis, Kyphosis, Shuffling gait OMIM:303350
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Lethargy ORPHA:324581
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Short... OMIM:609813
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Increased variability in muscle fiber diameter, Flexion contracture, External ophth... OMIM:619026
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Facial hypotonia, Diaphragmatic weakness, Gowers sign, Lower limb muscle wea... ORPHA:365
Sandhoff Disease
Muscle weakness, Kyphosis, Ataxia ORPHA:796
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysmetria, Ptosis, Gait ataxia, Dysdiadochokinesis, Limb dysmetria ORPHA:324262
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Thick eyebrow, Gait disturbance, Scoliosis, Synophrys ORPHA:2429
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Kyphosis, Diaphragmatic weakness, Ataxia, External ophthalmoplegia, Bulbar p... OMIM:211530
Combined Oxidative Phosphorylation Defect Type 13
Type 2 muscle fiber atrophy, Intrauterine growth retardation, Ankle flexion contracture, Type 1 m... ORPHA:319514
Autism Spectrum Disorder Due To Auts2 Deficiency
Upslanted palpebral fissure, Short palpebral fissure, Kyphosis, Joint contracture of the hand, Jo... ORPHA:352490
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Inability to walk, Ataxia, Ptosis, Gait ataxia, Short stature, Dysdiadochokinesis OMIM:614831
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Upslanted palpebral fissure, Kyphosis, Inability to walk, Ataxia, Unsteady gait, Short stature, S... OMIM:618443
Arthrogryposis, Distal, Type 5
Distal arthrogryposis, Firm muscles, Ptosis, Short stature, Scoliosis, Arthrogryposis multiplex c... OMIM:108145
Trismus-Pseudocamptodactyly Syndrome
Short stature, Ptosis ORPHA:3377
Fetal Akinesia Deformation Sequence 4
Short neck, Flexion contracture, Kyphosis, Skeletal muscle atrophy, Arthrogryposis multiplex cong... OMIM:618393
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Flexion contracture, Short neck, Thoracolumbar ... OMIM:616549
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Proximal muscle weakness, Ataxia, Ptosis, Bulbar palsy OMIM:615911
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Downslanted palpebral fissures, Short stature, Kyphosis, Scoliosis ORPHA:276630
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Kyphosis, Lower limb muscle weakness, Upper limb dysmetria, Limb muscle weakness, S... OMIM:614409
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Short neck, Ptosis, Downslanted palpebral fissures, Epicanthus, Blepharo... OMIM:614230
Coffin-Siris Syndrome 8
Thick eyebrow, Scoliosis, Ptosis, Long eyelashes OMIM:618362
Bruck Syndrome 1
Pterygium, Kyphosis, Vertebral wedging, Ankle flexion contracture, Platyspondyly, Knee flexion co... OMIM:259450
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Cornelia De Lange Syndrome 2
Short neck, Intrauterine growth retardation, Long eyelashes, Thick eyebrow, Ptosis, Highly arched... OMIM:300590
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, EMG: myopathic ab... OMIM:615418
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Distal muscle weakness, Triceps weaknes... OMIM:619574
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Distal arthrogryposis, Flexion contracture, Elbow flexion contracture, Ankle flexion contracture,... OMIM:617468
Spinocerebellar Ataxia, Autosomal Recessive 31
Growth delay, Ataxia, Ptosis, Muscle weakness, External ophthalmoplegia, Lumbar kyphoscoliosis OMIM:619422
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Ophthalmoplegia, Myopathy OMIM:540000
Adult Intestinal Botulism
Muscle weakness, Respiratory insufficiency due to muscle weakness, Ptosis, Diaphragmatic paralysis ORPHA:178487
Oculopharyngodistal Myopathy 1
Proximal muscle weakness, Foot dorsiflexor weakness, Increased variability in muscle fiber diamet... OMIM:164310
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Myopathy, Kyphosis OMIM:618234
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Growth delay, Short stature, Increased sarc... ORPHA:264580
Hemifacial Atrophy, Progressive
Blepharophimosis, Horner syndrome, Kyphosis, Ataxia OMIM:141300
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Short neck, Thoracolumbar scoliosis, Ptosis, Knee flexion contracture, Kyp... OMIM:114300
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Knee flexion contractu... OMIM:619461
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Gowers sign, Increased intramyocellular lipid droplets, Increased variability in muscle fiber dia... ORPHA:502423
Shashi-Pena Syndrome
Scoliosis, Kyphosis, Ptosis, Highly arched eyebrow OMIM:617190
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Ptosis OMIM:605407
Proximal Xq28 Duplication Syndrome
Ptosis, Short stature, Gait disturbance, Epicanthus, Blepharophimosis ORPHA:1762
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Proximal muscle weakness, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fiber... OMIM:607459
Combined Oxidative Phosphorylation Defect Type 7
Thoracic scoliosis, Ophthalmoplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inabili... ORPHA:254930
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Truncal ata... OMIM:617675
Myofibrillar Myopathy 10
Kyphosis, EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Musc... OMIM:619040
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysmetria, Dysdiadochokinesis, Lower limb muscle weakness, Ataxia, Ptosis, Distal muscle weakness... ORPHA:313772
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Generalized amyotrophy, Increased variability in muscle fiber diameter, Musc... OMIM:616866
Spinocerebellar Ataxia Type 28
Gait ataxia, Limb ataxia, Ptosis, Ophthalmoparesis ORPHA:101109
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Foot dorsiflexor weakness, Decreased muscle glycogen content, EMG: myopathic abnormalities, Upper... ORPHA:263297
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Foot dorsiflexor weakness, Lower limb muscle weakness, Generalized limb muscle atrophy, Steppage ... ORPHA:521411
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Ataxia, Ptosis, Muscle weakness, Facial diplegia, Ophthalmoplegia OMIM:613559
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Weak extraocular muscles, Thick eyebrow, Ptosis, Short stature, Synophrys, Blepharophimosis, Fron... OMIM:210745
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Ataxia, Unsteady gait, Scoliosis, Synophrys OMIM:300861
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Severe short stature, Thoracolumbar scoliosis, Platyspondyly, Knee flexion contracture,... OMIM:313420
Microphthalmia, Syndromic 13
Kyphoscoliosis, Short stature, Ptosis OMIM:300915
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Ptosis, Short stature, Scoliosis, Epicanthus, Delayed puberty ORPHA:1825
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Ptosis, Synophrys, Epicanthus, Blepharophimosis ORPHA:126
Jaberi-Elahi Syndrome
Dysmetria, Kyphosis, Inability to walk, Sparse eyebrow, Gait ataxia, Distal muscle weakness, Scol... OMIM:617988
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle weakness, Increased muscle lipid content, Rhabdomyolysis, Muscle fiber atrophy ORPHA:228302
Trisomy 5P
Short stature, Ptosis, Scoliosis ORPHA:1742
Spastic Paraplegia Type 7
Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Upper limb muscle we... ORPHA:99013
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Scoliosis, External ophthalmoplegia, Ptosis OMIM:618155
Sialidosis Type 2
Flexion contracture, Kyphosis, Skeletal muscle atrophy, Ataxia, Muscle weakness, Short stature ORPHA:87876
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Thenar muscle atrophy, Distal upper limb muscle weakness, Interosseus muscle atrophy, Fiber type ... OMIM:500013
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Rhabdomyolysis, Ptosis, Macroglossia, Muscle weakness, Difficulty walking OMIM:251900
Mitochondrial Complex I Deficiency, Nuclear Type 16
Scoliosis, Aplasia of the left hemidiaphragm, Intrauterine growth retardation, Ptosis OMIM:618238
Arthrogryposis, Distal, Type 5D
Short neck, Elbow flexion contracture, Decreased muscle mass, Hyperlordosis, Ptosis, Highly arche... OMIM:615065
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Short stature, Ptosis ORPHA:1373
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Proximal muscle weakness in ... ORPHA:99956
Fibrosis Of Extraocular Muscles, Congenital, 1
Superior rectus atrophy, Restrictive external ophthalmoplegia, Bilateral ptosis, Levator palpebra... OMIM:135700
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Ophthalmoparesis ORPHA:1349
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Downslanted palpebral fissures, Scoliosis, Camptodactyly of toe, Synophrys, Marked musc... OMIM:300280
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ptosis, Knee flexion contracture, Muscle weakness, Camptodactyly, Ophthalmoplegia OMIM:618198
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Ptosis, Limb muscle weakness, Muscle weakness, Bulbar palsy, Fac... ORPHA:97229
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Muscle weakness, Short statur... ORPHA:168572
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Axial muscle weakness, Skeletal muscle atrophy, Abnormality... ORPHA:171430
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Ophthalmo... ORPHA:3068
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Flexion contracture, Short neck, Kyphosis, Inability to walk, Ptosis... OMIM:301041
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Short neck, Elbow flexion contracture, Ptosis, Knee flexion contracture, Downslanted palpebral fi... OMIM:178110
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Short neck, Long eyelashes in irregular rows, Skeletal muscle atrophy, B... OMIM:255800
Widow'S Peak Syndrome
Short stature, Mild short stature, Kyphosis, Ptosis OMIM:314570
Autosomal Recessive Ataxia, Beauce Type
Dysmetria, Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Ataxia, Ptosis, Scolios... ORPHA:88644
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, EMG: myopathic ... ORPHA:169189
Intellectual Developmental Disorder, Autosomal Dominant 23
Upslanted palpebral fissure, Kyphosis, Sacral dimple, Hyperlordosis, Ptosis, Downslanted palpebra... OMIM:615761
Wieacker-Wolff Syndrome
Upslanted palpebral fissure, Short neck, Kyphosis, Hyperlordosis, Ptosis, Muscle weakness, Congen... OMIM:314580
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Leg muscle stiffness, Dysmetria, Ptosis, Progressive cerebellar ataxia, Truncal ataxia, Tortuosit... ORPHA:284289
Ophthalmoplegia Totalis With Ptosis And Miosis
Ophthalmoplegia, Ptosis OMIM:258400
Intellectual Developmental Disorder, Autosomal Dominant 35
Facial hypotonia, Intrauterine growth retardation, Ptosis, Gait ataxia, Downslanted palpebral fis... OMIM:616355
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Downslanted palpebral fissures, Kyphoscoliosis, Difficulty walking, Macroglossia OMIM:227250
Distal Trisomy 15Q
Short neck, Intrauterine growth retardation, Blepharophimosis, Ptosis, Downslanted palpebral fiss... ORPHA:1707
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Ophthalmoplegia OMIM:614924
Carey-Fineman-Ziter Syndrome 1
Flexion contracture, Skeletal muscle atrophy, Growth delay, Ptosis, Downslanted palpebral fissure... OMIM:254940
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Intrauterine growth retardation, Growth delay, Ptosis, Downslanted palpebral fissures, Short stat... OMIM:617333
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the vertebral bodies, ... ORPHA:2064
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Leg muscle stiffness, Flexion contracture, Generalized limb muscle atrophy, Ptosis, Unsteady gait... ORPHA:137898
Ck Syndrome
Upslanted palpebral fissure, Kyphosis, Hyperlordosis, Scoliosis, Almond-shaped palpebral fissure,... OMIM:300831
Proteus Syndrome
Ptosis, Downslanted palpebral fissures, Limbal dermoid, Spinal canal stenosis, Kyphoscoliosis OMIM:176920
Spastic Paraplegia 53, Autosomal Recessive
Lower limb hypertonia, Kyphosis, Upper limb hypertonia, Gait disturbance OMIM:614898
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Calf muscle pse... ORPHA:79083
Myopathy With Lactic Acidosis, Hereditary
Muscle weakness, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets OMIM:255125
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Cervical kyphosis, Short neck, Flexion contracture, Ptosis, Platyspondyly, Short stature OMIM:245160
Retinal Dystrophy With Leukodystrophy
Dysmetria, Gowers sign, Falls, Bilateral ptosis, Proximal muscle weakness, Waddling gait OMIM:618863
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Ataxia, Ptosis, Gait ataxia, Truncal ataxia, Muscle weakness, Limb ataxia OMIM:614153
Rare Non-Syndromic Intellectual Disability
Difficulty walking, Ptosis ORPHA:101685
Kleefstra Syndrome 2
Thick eyebrow, Scoliosis, Kyphosis, Growth delay OMIM:617768
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy ORPHA:2348
3Mc Syndrome
Diastasis recti, Blepharophimosis, Telecanthus, Caudal appendage, Hyperlordosis, Ptosis, Highly a... ORPHA:293843
Hengel-Maroofian-Schols Syndrome
Contractures involving the joints of the feet, Thick eyebrow, Inability to walk, Ptosis, Short st... OMIM:619641
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ophthalmoplegia, Ataxia, Ptosis OMIM:618225
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Ataxia, Absent pubertal growth spurt, Unsteady gait, Short stature, Scoliosis, Waddling... ORPHA:464282
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Fatigable weakness, Proximal amyotrophy, Ophthalmoparesis OMIM:159400
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Intrauterine growth retardation, Platyspondyly, Irregular vertebral endplates, Scoliosi... OMIM:234250
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of ... ORPHA:1354
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Growth delay, Ptosis, Highly arched eyebrow OMIM:616154
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Ragged-red muscle fibers, Increased variability in muscle fiber diamete... ORPHA:70595
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Coronal cleft vertebrae, Thoracic kyphosis, Kyphosis, Severe... ORPHA:93314
Joubert Syndrome 36
Ptosis, Highly arched eyebrow OMIM:618763
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Myopathy, Progressive external ophthalmoplegia, Ptosis OMIM:613077
Metatropic Dysplasia
Flexion contracture, Kyphosis, Severe short stature, Caudal appendage, Hypoplasia of the odontoid... OMIM:156530
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Short neck, Facial hypotonia, Intrauterine growth retardation, Inability to walk, Ptosis, Downsla... OMIM:616801
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Short stature, Abdominal wall muscle weakness, Ptosis ORPHA:638
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Ptosis, Bulbar palsy, Progressive cerebellar ataxia, Distal muscle weakne... ORPHA:275872
Ophthalmoplegia, Familial Total, With Iris Transillumination
Total ophthalmoplegia, External ophthalmoplegia, Ptosis, Internal ophthalmoplegia OMIM:165098
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Inability to walk, Flexion contracture, Ptosis OMIM:617664
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Thick eyebrow, Ptosis, Highly arched eyebrow, Short stature, Synophrys, Blepharophimosis ORPHA:2057
Glycogen Storage Disease Vii
Muscle weakness, Increased muscle glycogen content OMIM:232800
Non-Distal Monosomy 10Q
Upslanted palpebral fissure, Ataxia, Ptosis, Gait disturbance, Synophrys, Epicanthus ORPHA:1581
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ptosis, Fatigable weakness, Muscle flaccidity, Myopathy, Oculomotor nerve palsy, Ophthalmoplegia,... ORPHA:257
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture, Long eyelashes, Thick eyebrow, Synophrys OMIM:618658
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Kyphosis, Platyspondyly