Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
actin alpha 1, skeletal muscle
Synonyms:
Acts,  Actsk-1

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 Acta1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Acta1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Scoliosis, Slender build, Type 1 muscle fiber... OMIM:161800
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Neck muscle weakness, Hamstring contractures,... ORPHA:97244
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Scoliosis, Facial diplegia, Foot... ORPHA:171436
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... ORPHA:171433
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... ORPHA:171430

The table below shows human diseases predicted to be associated to Acta1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Ptosis, Type 1 muscle fiber predominance OMIM:616304
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Lu... OMIM:619042
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... OMIM:500002
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness OMIM:616231
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Oculopharyngeal Muscular Dystrophy 1
Progressive ptosis, Limb muscle weakness, Ragged-red muscle fibers, Ptosis, Gait disturbance, Fac... OMIM:164300
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Atrophic scars, Myopathy, Proximal muscle weaknes... OMIM:616471
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618848
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... OMIM:300696
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Myasthenic Syndrome, Congenital, 13
Scoliosis, Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Ptosis, Knee flexion contracture, Ataxia OMIM:616330
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Ptosis, Multiple joint contractures OMIM:616227
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Distal muscle weakness OMIM:604454
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis,... OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Increased variability in muscle fiber diameter, Proximal muscle weakness in uppe... OMIM:619566
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Generalized ... OMIM:256030
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Foot dorsiflexo... ORPHA:603
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Distal muscle weakness OMIM:614369
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Neck flexor weak... OMIM:616209
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Neck m... OMIM:610687
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Proxi... OMIM:609524
Myasthenic Syndrome, Congenital, 8
Ptosis, Weakness of facial musculature OMIM:615120
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... OMIM:609285
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... OMIM:609284
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Slender build, Progre... ORPHA:399103
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Multiple joint contractur... ORPHA:424107
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Increased variability in muscle fiber diameter, Increased endomysial connective ... ORPHA:75840
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers... OMIM:500009
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... ORPHA:178145
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Spondylolisthesis, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal... ORPHA:270
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Failure to thrive, Lumbar hyperlordosis, Generalized ... OMIM:255310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Ptosis, Gait disturbance, Leg muscle stiffness OMIM:108600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Scoliosis, Slender build, Type 1 muscle fiber... OMIM:161800
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Generalized weakness of limb muscles, Lumbar hyperlordosis, Type 1 muscle fiber pred... ORPHA:353327
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... OMIM:613530
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Ptosis, Scapul... OMIM:617069
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Diaph... OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Lower limb muscle weakness, Foot dorsiflexor weakness, Hand m... OMIM:607684
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:608807
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... OMIM:603034
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, M... ORPHA:610
Muscular Dystrophy, Congenital, Lmna-Related
Spinal rigidity, Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contrac... OMIM:613205
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ptosis, Ragged-red muscle fibers, Facial palsy OMIM:609283
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ophthalmoparesis, Scoliosis, Neck muscle weakness, Limb muscle weakness, Weakness of facial muscu... OMIM:608930
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Ophthalmoplegia, Resp... OMIM:607855
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... OMIM:611615
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Kyphosis, Gowers sign, Proximal muscle weakness, Axia... OMIM:255200
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Intrinsic han... ORPHA:399086
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy, Neck flex... OMIM:609273
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the shoulder girdle muscula... ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Bulbar palsy, ... OMIM:603511
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Neonatal death, Generalized mus... OMIM:616165
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Obesity, Distal lower limb muscle weakness, Ptosis, Fatt... ORPHA:171706
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Ptosis, Fac... OMIM:300580
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Neck muscle weakness, Hamstring contractures,... ORPHA:97244
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Distal mus... OMIM:610099
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... ORPHA:98905
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Multiple lipomas, Progre... OMIM:151800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Lumbar hyperlordosis, Limb-girdle muscle weakness,... OMIM:613818
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... ORPHA:98913
2p15-16.1 microdeletion syndrome
Telecanthus, Ptosis, Camptodactyly of finger, Downslanted palpebral fissures DECIPHER:70
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Slender build, Multiple joint contractures, Myopathy, Gait disturbance, Limb-... ORPHA:352470
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... OMIM:620285
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive, Elevated circulating aspartate... OMIM:613752
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... OMIM:617070
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to t... OMIM:254090
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cal... ORPHA:263494
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Increased variability in muscle fiber diameter, Skeletal muscle atro... ORPHA:238329
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Lower limb muscle weakness, Bilateral ptosis, Limb-girdle muscle weakness, Viral infection-induce... ORPHA:329314
Distal Myotilinopathy
Distal amyotrophy, Progressive distal muscle weakness, Multiple joint contractures, Abnormal musc... ORPHA:98911
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Myasthenic Syndrome, Congenital, 10
Distal amyotrophy, Weakness of facial musculature, Proximal amyotrophy, Ptosis, Waddling gait OMIM:254300
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Kyphosc... ORPHA:597
Classic Multiminicore Myopathy
Spinal rigidity, Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Intermittent episod... ORPHA:324604
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle weakness, Respiratory insufficiency due... OMIM:300816
Keratosis Pilaris Atrophicans
Absent eyelashes, Sparse eyebrow, Epiphora OMIM:604093
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Scoliosis, Facial diplegia, Foot... ORPHA:171436
Merrf
Multiple lipomas, Ragged-red muscle fibers, Myopathy ORPHA:551
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Falls, Ptosis, Arthrogryposis multiplex congenita, Failure to thrive OMIM:616326
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness OMIM:614807
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Lumbar hyperlordosis, Limb-girdle muscle weakness, Hypoglycosylation of alpha... OMIM:609308
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Arthrogryposis multiplex congenita ORPHA:1484
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Myopathy OMIM:545000
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic flaccid weakness, Respiratory paralysis, Increased intramyoc... ORPHA:681
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Kyphosis, Scapular muscle atrophy, ... OMIM:181405
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... OMIM:619790
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Yoon-Bellen Neurodevelopmental Syndrome
Failure to thrive, Bilateral ptosis, Downslanted palpebral fissures, Inability to walk, Ataxia, H... OMIM:619701
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Short neck, Fle... ORPHA:178148
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Progressive ptosis, Difficulty walking, Distal lower lim... ORPHA:98897
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Peroneal musc... OMIM:611588
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal lower limb amyotrophy, Claw hand deformity, Distal lower limb muscle w... OMIM:605285
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Falls, Shoulder girdle muscle weakness, Slender build, Myopathy, Ptosis, Gait disturbance, Pelvic... OMIM:615156
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Lumbar hyperlordosis,... ORPHA:171881
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Oculopharyngeal Muscular Dystrophy 2
Proximal muscle weakness in lower limbs, Limb muscle weakness, Loss of ambulation, Ptosis, Ankle ... OMIM:620460
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... OMIM:616052
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis, Calf muscle hypertrophy OMIM:618197
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Spinal rigidity, Neck muscle weaknes... OMIM:617258
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Elevated circulating hepatic transaminase con... ORPHA:369840
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumb... OMIM:615980
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality, Dacryocystitis ORPHA:1562
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Downslanted palpebral fissures, Lacrimation abnorm... ORPHA:1807
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr... OMIM:616470
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... OMIM:619542
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Hep... ORPHA:254864
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Ptosis, Upslanted palpebral fissure OMIM:620086
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Combined Oxidative Phosphorylation Deficiency 8
Generalized muscle weakness, Increased variability in muscle fiber diameter, Failure to thrive, N... OMIM:614096
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Difficulty walking, Limb ataxia, Spastic ataxia, Ptosis, Abnormal eyelid mo... ORPHA:251282
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Inguinal hernia, Distal lower limb muscle weakness, Fiber type groupi... OMIM:619903
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophtha... OMIM:613662
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Facial palsy OMIM:617732
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... OMIM:617519
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Blepharonasofacial Malformation Syndrome
Sparse lateral eyebrow, Telecanthus, Lacrimation abnormality, Epicanthus, Blepharophimosis, Abnor... ORPHA:1252
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Epiphora, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent la... OMIM:167730
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis, Abnormal muscle fiber protein expression ORPHA:330054
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Ragged-red muscle fibers, Lethargy, Ptosis, Generalized amyotrophy OMIM:613561
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Ptosis, Knee flexion contracture, Decreased body weight OMIM:616681
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Bilateral ptosis, Difficul... OMIM:616479
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Bilateral ptosis, Decreased cervical spine flexion... ORPHA:254361
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Ptosis, Weakness of facial musculature OMIM:618637
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Weakness of facial musculatur... OMIM:618416
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... OMIM:608931
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiphora OMIM:148200
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Kondoh Syndrome
Ptosis, Thick eyebrow, Interphalangeal joint contracture of finger, Knee flexion contracture OMIM:606242
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Diffi... ORPHA:401768
Spinocerebellar Ataxia 28
Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Ptosis, Lower limb hypertonia OMIM:610246
Congenital Myopathy 24
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Gowers sign, Facial palsy, M... OMIM:617336
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis, Abnormal mitochondria in muscle tissue OMIM:258470
Congenital Myopathy 22A, Classic
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, External... OMIM:620351
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Gait ataxia, Ptosis, Torticollis, Hypomimic face, Bradykinesia OMIM:619862
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, Pr... ORPHA:480
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... OMIM:605809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Back pain, Int... ORPHA:329478
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Respiratory insu... OMIM:254210
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, P... ORPHA:254886
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased variability in muscle fiber diameter, Increased intramyoc... OMIM:619065
Arthrogryposis, Distal, Type 7
Distal arthrogryposis, Ptosis, Arthrogryposis multiplex congenita OMIM:158300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... OMIM:620011
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Akinesia, Gait imbalance, Conjunctival hyperemia, Bradykinesia, Decreased l... ORPHA:240071
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... ORPHA:169186
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Respiratory insufficiency due to... OMIM:609560
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... ORPHA:171433
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Proximal muscle weakness, Weakness o... OMIM:615959
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ... OMIM:248800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy, Ptosis, Gait disturbance, Ataxia OMIM:125250
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased connective tissue, ... OMIM:226670
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Ptosis, Gait disturbance ORPHA:1875
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Progressive distal mu... ORPHA:397744
Lacrimal Duct Defect
Epiphora, Lacrimal duct atresia, Dacryocystocele, Conjunctivitis, Dacryocystitis OMIM:149700
Spastic Ataxia 5, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness, Dysmetria, Spastic ataxia, Ptosis, Increased intra... OMIM:614487
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Myopathy, Splenomegaly, Lipodystrophy, Pancrea... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Ptosis, Flexion contracture, Faci... OMIM:301830
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, External ophthalmoplegia, Failure to thrive in in... OMIM:619026
Epithelial Recurrent Erosion Dystrophy
Epiphora OMIM:122400
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Skeletal muscle atrophy, Inability to walk, Bilateral ptosis ORPHA:330050
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Corneal Dystrophy, Meesmann, 2
Epiphora OMIM:618767
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb... OMIM:619461
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Ptosis, Small for gestational age, Ataxia OMIM:615917
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Bilateral ptosis, Muscle... OMIM:258450
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Kyphoscoliosis, Triceps we... OMIM:619574
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Shoulder flexion contracture, Elbow flexion contracture, Telecanthus, Kn... OMIM:277720
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Downslanted palpebral fissures, Difficulty walking, Inability to walk, F... OMIM:611890
Mitochondrial Complex I Deficiency, Nuclear Type 16
Choreoathetosis, Ptosis, Failure to thrive, Aplasia of the left hemidiaphragm OMIM:618238
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Progressive ext... OMIM:615084
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Lacrimation abnormality, Sparse eyebrow ORPHA:1882
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Ptosis, Increased intramyocellular lipi... OMIM:252011
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Waardenburg Syndrome Type 1
Telecanthus, Thick eyebrow, Lacrimation abnormality, Ptosis, White eyebrow, White eyelashes, Syno... ORPHA:894
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Ptosis, Horizontal eyebrow OMIM:619311
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Corneal Dystrophy, Meesmann, 1
Epiphora OMIM:122100
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Gait ataxia, Limb dysmetria, Dysmetria, Ptosis, Dysdiadochokinesis ORPHA:324262
Autism, Susceptibility To, X-Linked 6
Obesity, Ptosis OMIM:300872
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Downslanted palpebral fissures, Thick eyebrow, Up... OMIM:615834
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bilateral ptosis, Failure to thrive in infancy, Difficulty walking, Spin... ORPHA:254875
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Bilateral ptosis, Gait imbalance, Limb muscle weakness, Limb dysmetria, ... ORPHA:329336
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Proximal muscle weakness, Axial muscle weakness, ... OMIM:616720
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Ptosis, Blepharophimosis, Abnormal lacrimal duct morphology, Synophrys ORPHA:126
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Coenzyme Q10 Deficiency, Primary, 4
Decreased level of coenzyme Q10 in skeletal muscle, Ptosis, Increased intramyocellular lipid drop... OMIM:612016
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Scoliosis, Lowe... ORPHA:99013
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Limb hypertonia, Hypomimic face, Bradykinesia, Small for gestational age ORPHA:70594
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis, Weakness of facial musculature OMIM:616324
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Lower limb muscle weakness, Generalized limb muscle atrophy, Facial diplegia, Foot dorsiflexor we... ORPHA:521411
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis, Congenital foot contractures, Distal amyotrophy ORPHA:3454
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Calf muscle hypertrophy, Gowers sign, P... ORPHA:119
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Ptosis, Athetosis OMIM:617235
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Left ventricular hypertrophy, Diabetes mellitus OMIM:540000
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Epiphora, Ptosis ORPHA:157835
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Ptosis, Ataxia, Hypomimic face, Dysdiadochokinesis OMIM:618049
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive, Elevated circulating aspartate... OMIM:615595
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ophthalmoparesis, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Multiple lipoma... ORPHA:1349
Sunct Syndrome
Epiphora, Increased tear production, Conjunctival hyperemia, Ptosis, Palpebral edema ORPHA:57145
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis OMIM:162100
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Hand muscle weakness, G... ORPHA:98908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Ptosis, Hypoglycosylation of alpha-dystrogly... OMIM:615351
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, Dysmetria, Myopathy, Ptosis, Dysdiadochokinesis, Progressive cerebellar ataxia ORPHA:254881
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Gowers sign, Facial palsy, ... OMIM:602541
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Broad-based gait, Difficulty walking, Progressive truncal ataxia, Multiple joint contractures, Dy... ORPHA:363429
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Failure to thrive, Type 1 muscle fiber predominance, Hip contracture, ... ORPHA:319514
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Distal amyotrophy, Lower limb muscle weakness, Dysmetria, Ptosis, Ataxia, Dysdiadochokinesis, Abn... ORPHA:313772
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Gait disturbance, Ptosis, Facial hypotonia OMIM:618578
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Leg muscle stiffness, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Progressive gai... ORPHA:284289
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Limb muscle weakness, Cachexia, Ptosis, Ataxia, Facial palsy ORPHA:97229
Nasolacrimal Duct Cyst
Epiphora, Chronic irritative conjunctivitis, Dacryocystocele, Narrow palpebral fissure, Nasolacri... ORPHA:141083
Striatonigral Degeneration, Infantile, Mitochondrial
Ophthalmoparesis, Ragged-red muscle fibers OMIM:500003
Mcdonough Syndrome
Short palpebral fissure, Cachexia, Ptosis, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:2471
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... ORPHA:600
Weiss-Kruszka Syndrome
Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures ORPHA:502430
Coffin-Siris Syndrome 8
Ptosis, Long eyelashes, Thick eyebrow, Failure to thrive OMIM:618362
Segawa Syndrome, Autosomal Recessive
Ptosis, Gait ataxia OMIM:605407
Arthrogryposis, Distal, Type 2B3
Camptodactyly, Ptosis, Downslanted palpebral fissures OMIM:618436
Fibrosis Of Extraocular Muscles, Congenital, 1
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Superior rectus... OMIM:135700
Fazio-Londe Disease
Ptosis, Facial diplegia OMIM:211500
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ptosis, Skeletal muscle atrophy, Ataxia ORPHA:1933
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Mitochondrial Neurogastrointestinal Encephalomyopathy
External ophthalmoplegia, Ophthalmoparesis, Elevated circulating hepatic transaminase concentrati... ORPHA:298
Chondroectodermal Dysplasia With Night Blindness
Difficulty walking, Epiphora, Gait disturbance ORPHA:319195
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle ... OMIM:600462
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... ORPHA:300605
Myasthenic Syndrome, Congenital, 16
Ptosis, Gait disturbance, Bilateral ptosis OMIM:614198
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congeni... OMIM:619334
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille... OMIM:615418
Limbal Stem Cell Deficiency
Blepharospasm, Epiphora, Conjunctival hyperemia, Lacrimation abnormality ORPHA:171673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progressive external op... OMIM:609286
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis, Skeletal muscle atrophy ORPHA:2013
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Combined Oxidative Phosphorylation Defect Type 7
Distal amyotrophy, Skeletal muscle atrophy, Failure to thrive, Lower limb muscle weakness, Upper ... ORPHA:254930
Combined Oxidative Phosphorylation Deficiency 7
Facial paralysis, Failure to thrive, Skeletal muscle atrophy, Facial diplegia, Ptosis, Ataxia OMIM:613559
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Joint contracture of the hand, Camptodactyly of finger, Congenital fibrosis of extraocular muscle... OMIM:600638
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Lacrimation abnormality, Epicanthus, Congenital muscular torticollis ORPHA:2916
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Ptosis OMIM:616321
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Axial muscle weakness... ORPHA:206569
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Neuropathic spinal arthropathy, Muscle fib... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Neuropathic spinal arthropathy, Muscle fib... ORPHA:98914
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Upslanted palpebral fissure, Almond-shaped palpebral fissure, Increased body weight, Epicanthus, ... ORPHA:589905
Hydroa Vacciniforme
Epiphora ORPHA:330058
Hypertrichosis Cubiti
Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolacrimal system morphology, Ptosis, A... ORPHA:2220
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ... OMIM:617468
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Enamel hypoplasia OMIM:617915
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Highly arched eyebrow, Ptosis ORPHA:438178
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis, Facial palsy OMIM:616322
Pure Mitochondrial Myopathy
Quadriceps muscle weakness, Bilateral ptosis, Shoulder girdle muscle weakness, Rhabdomyolysis, Lo... ORPHA:254854
Hypotonia-Cystinuria Syndrome
Failure to thrive, Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia, Muscle weakness OMIM:606407
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:616325
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Wernicke-Korsakoff Syndrome
Ptosis, Ataxia OMIM:277730
Mosaic Trisomy 14
Ptosis, Blepharophimosis, Failure to thrive, Camptodactyly of finger ORPHA:1703
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Oculogastrointestinal Muscular Dystrophy
Cachexia, Ptosis, Skeletal muscle atrophy, Myopathy ORPHA:1876
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Facial palsy ORPHA:2743
Synaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... ORPHA:98915
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Ptosis, EMG: myopathic abnormalities, Downslanted palpebral fissures ORPHA:457365
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Downslanted palpebral fissures, Failure to thrive in infancy, Inability to walk, Hip contracture,... OMIM:616801
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Telecanthus, Ptosis, Obesity, Blepharophimosis OMIM:606772
Acrocraniofacial Dysostosis
Lacrimation abnormality, Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:949
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Leg muscle stiffness, Generalized limb muscle atrophy, Difficulty walking, Loss of ambulation, Sp... ORPHA:137898
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Ptosis, Ataxia, Dysdiadochokinesis OMIM:614831
Nasopalpebral Lipoma-Coloboma Syndrome
Hamartoma of the orbital region, Sparse eyebrow, Epiphora, Lacrimal punctal atresia, Telecanthus,... ORPHA:2399
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis, Gait ataxia, Myopathy, Ataxia OMIM:613077
Branchiootorenal Syndrome 1
Lacrimal duct aplasia, Lacrimation abnormality, Lacrimal duct stenosis, Facial palsy, Gustatory l... OMIM:113650
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exter... OMIM:607459
Ring Chromosome 1 Syndrome
Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:1437
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Limb ataxia, Gait ataxia, Ptosis, Ataxia, Truncal ataxia OMIM:614153
Hengel-Maroofian-Schols Syndrome
Foot joint contracture, Inability to walk, Thick eyebrow, Gait imbalance, Epicanthus, Ptosis, Syn... OMIM:619641
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Rhabdo... OMIM:255125
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Weakness of facial musculature, Proximal muscle w... ORPHA:502423
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Difficulty walking, Limb ataxia, Dysmetria, Ptosis, Ataxia, Truncal ataxia ORPHA:276198
Terminal Osseous Dysplasia
Camptodactyly of finger, Telecanthus, Upslanted palpebral fissure, Multiple joint contractures, C... OMIM:300244
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... ORPHA:171430
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... OMIM:175700
Waardenburg Syndrome
Abnormal eyebrow morphology, Telecanthus, Lacrimation abnormality, Ptosis, Synophrys ORPHA:3440
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Proximal Xq28 Duplication Syndrome
Epicanthus, Ptosis, Gait disturbance, Blepharophimosis ORPHA:1762
Sclerosteosis
Ptosis, Facial palsy ORPHA:3152
Borjeson-Forssman-Lehmann Syndrome
Obesity, Ptosis, Blepharophimosis, Narrow palpebral fissure OMIM:301900
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Epicanthus, Obesity, Thick eyebrow ORPHA:444002
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Failure to thrive OMIM:620240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... OMIM:157640
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Distal Duplication 15Q
Camptodactyly of finger, Downslanted palpebral fissures, Congenital muscular torticollis, Ptosis,... ORPHA:1707
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Epiphora ORPHA:98957
Hyperostosis Cranialis Interna
Epiphora, Facial palsy OMIM:144755
Carcinoid Syndrome
Epiphora, Myopathy ORPHA:100093
Fibrosis Of Extraocular Muscles, Congenital, 2
Congenital fibrosis of extraocular muscles, Bilateral ptosis OMIM:602078
Spinocerebellar Ataxia Type 28
Ptosis, Gait ataxia, Limb ataxia ORPHA:101109
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Ophthalmoparesis, Skeletal muscle atrophy, Hyperlordosis, Abnormal muscle fiber morphology, Facia... ORPHA:3068
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Ptosis, Myopathy OMIM:616549
Native American Myopathy
Progressive congenital scoliosis, Congenital contracture, Skeletal muscle atrophy, Muscle fiber a... ORPHA:168572
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Bilateral ptosis OMIM:618856
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive, Inability to walk, Facial diplegia, Loss of ability t... OMIM:612073
Vernal Keratoconjunctivitis
Epiphora, Allergic conjunctivitis, Conjunctival hyperemia, Keratoconjunctivitis, Blepharitis, Abn... ORPHA:70476
Dyskeratosis Congenita, Autosomal Recessive 6
Epiphora, Failure to thrive, Ataxia OMIM:616353
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis, Failure to thrive ORPHA:163690
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Epicanthus, Distal arthrogryposis, Ptosis, Blepharophimosis,... OMIM:108145
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Cholelithiasis, Jaundice, Increased muscle glycog... OMIM:232800
Congenital Disorder Of Glycosylation, Type Iio
Ptosis, Skeletal muscle atrophy, Downslanted palpebral fissures OMIM:616828
Non-Distal Deletion 10Q
Upslanted palpebral fissure, Epicanthus, Ptosis, Gait disturbance, Ataxia, Synophrys ORPHA:1581
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Inability to walk, Upslanted palpebral fissure, Ptosis, Ataxia, Bradykinesia, H... OMIM:617854
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Cholecystitis, Myopathy, Splenome... OMIM:611881
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Tendon rupture, Fiber... OMIM:620080
Char Syndrome
Ptosis, Highly arched eyebrow, Thick eyebrow OMIM:169100
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Downslanted palpebral fissures, Difficulty walking, Ptosis, Limb hypertonia, A... ORPHA:442835
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Johanson-Blizzard Syndrome
Lacrimation abnormality, Absent lacrimal punctum, Failure to thrive ORPHA:2315
Freeman-Sheldon Syndrome
Ptosis, Failure to thrive, Camptodactyly of finger, Downslanted palpebral fissures ORPHA:2053
Trisomy 5P
Obesity, Ptosis ORPHA:1742
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Thick eyebrow, Ptosis, Blepharophimosis, Frontalis muscle weakness, Synophrys OMIM:210745
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis OMIM:616154
Spinocerebellar Ataxia, Autosomal Recessive 8
Ptosis, Gait ataxia, Dysmetria, Limb ataxia OMIM:610743
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Telecanthus, Thick eyebrow, Epicanthus, Ptosis OMIM:617268
Pontocerebellar Hypoplasia, Type 16
Ptosis, Skeletal muscle atrophy, Limb hypertonia OMIM:619527
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Supernumerary lacrimal punctum, Decreased lacrimation, Lacrimal gland hypo... ORPHA:572333
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Lethargy, Ptosis, Small for gestational age, Choreoathetosis OMIM:312170
Foxp1 Syndrome
Failure to thrive, Downslanted palpebral fissures, Ptosis, Blepharophimosis, Flexion contracture,... ORPHA:391372
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Ptosis, Type 2 muscle fiber atrophy OMIM:159400
Myasthenic Syndrome, Congenital, 24, Presynaptic
Camptodactyly, Distal arthrogryposis, Ptosis, Knee flexion contracture OMIM:618198
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal upper limb muscle weakness, Interosseus muscle atrophy, Distal lower limb amyotrophy, Dist... OMIM:500013
Autosomal Dominant Optic Atrophy Plus Syndrome
Ataxia, Limb-girdle muscle weakness, Myopathy, Bilateral ptosis ORPHA:1215
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Lethargy, Ptosis, Ataxia, Bradykinesia ORPHA:101150
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Alacrima, Periorbital dermoid cyst, Lacrimal duct stenosis, Scapular winging, Conjunctivitis OMIM:615560
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Insulin insensitivity, Type II diabetes mellitus, Weakness of fac... OMIM:602668
Isolated Congenital Alacrima
Alacrima, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivitis ORPHA:91416
Intellectual Developmental Disorder With Autism And Macrocephaly
Ptosis, Overweight, Downslanted palpebral fissures OMIM:615032
Ehlers-Danlos Syndrome, Classic-Like, 1
Atrophic scars, Proximal muscle weakness, Increased connective tissue, Hiatus hernia, Proximal am... OMIM:606408
Polymyositis
Chondrocalcinosis, Proximal muscle weakness, Weight loss, Abnormal muscle fiber morphology, Hepat... ORPHA:732
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Ptosis, Gait disturbance, Ataxia, Hypomimic face, Dysdiadochokinesis ORPHA:352649
Marsili Syndrome
Lacrimation abnormality OMIM:147430
Houge-Janssens Syndrome 1
Downslanted palpebral fissures, Gait ataxia, Congenital muscular torticollis, Ptosis, Facial hypo... OMIM:616355
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Inability to walk, Limb muscle weakness, Facial diplegia, Ptosis, Flexio... OMIM:218000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Decreased lacrimation, Failure to thrive OMIM:242150
Lacrimoauriculodentodigital Syndrome 2
Alacrima, Lacrimal duct aplasia, Lacrimal duct atresia, Absent lacrimal punctum, Conjunctivitis OMIM:620192
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Proximal muscle weakness, Weakness o... OMIM:616239
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:99845
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Multiple lipomas, Scoliosis, M... OMIM:617675
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Ptosis, Syn... OMIM:300590
Birk-Landau-Perez Syndrome
Failure to thrive in infancy, Difficulty walking, Long eyelashes, Limb ataxia, Upslanted palpebra... OMIM:617595
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Myopathy, Weakness of facial musculature, Ptosis, Gait disturbance, Scap... ORPHA:98673
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Elevated circulatin... ORPHA:206572
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Epicanthus, Cachexia, Ptosis, Hypomimic face, Limb joint contracture, Flexion co... OMIM:618186
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Ptosis, Generalized amyotrophy ORPHA:275872
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Ptosis, Obesity, Blepharophimosis ORPHA:397973
Cockayne Syndrome Type 1
Foot joint contracture, Failure to thrive, Difficulty walking, Gait disturbance, Ataxia, Conjunct... ORPHA:90321
Alacrima, Congenital, Autosomal Dominant
Lacrimal punctal atresia, Alacrima, Decreased lacrimation, Lacrimal gland hypoplasia OMIM:103420
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy, Weakness of facial musculature OMIM:616323
Graft Versus Host Disease
Skeletal muscle atrophy, Failure to thrive, Dupuytren contracture, Myositis, Decreased lacrimation ORPHA:39812
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging OMIM:613507
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Gait ataxia, Ptosis, Arthrogryposis multiplex congenita OMIM:243180
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Ptosis, Failure to thrive, Ataxia OMIM:618226
Schwartz-Jampel Syndrome, Type 1 <