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Gene: Col6a1 MGI:88459

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen, type VI, alpha 1
Synonyms:
Col6a-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Col6a1 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 Col6a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Scapuloperoneal myopathy, myh7-related
Weakness of facial musculature, Scapuloperoneal myopathy, EMG: myopathic abnormalities, Myopathy OMIM:181430
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... OMIM:609115
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus... OMIM:615424
Polyglucosan Body Myopathy 2
Shoulder girdle muscle weakness, Difficulty walking, Hand muscle weakness, Pelvic girdle amyotrop... OMIM:616199
Nonaka Myopathy
Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Rimmed vacuol... OMIM:605820
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
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... ORPHA:611
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... OMIM:617158
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy, Myopathy OMIM:208100
Nemaline Myopathy 6
Limb muscle weakness, Skeletal muscle atrophy, Nemaline bodies, Myopathy OMIM:609273
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Gait disturbance, Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Proxi... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... OMIM:608423
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Myopathy, Distal, Tateyama Type
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... OMIM:614321
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Weakness of orbicularis oculi muscle, Ataxia, Difficulty walking, Neck muscl... OMIM:500002
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... OMIM:271150
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Gne Myopathy
Steppage gait, Muscle weakness, Quadriceps muscle weakness, Rimmed vacuoles, Hypothyroidism, Shou... ORPHA:602
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Myopathy, EMG: myopathic abnormalities, Distal upper limb amyotrop... ORPHA:603
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, EMG: myopathic abnorm... ORPHA:609
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... OMIM:301075
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in lower limbs, Fiber type grouping, Weakness of facial musculature, Sca... OMIM:619733
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... OMIM:618129
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... OMIM:601846
Miyoshi Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Shoul... ORPHA:45448
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Hereditary Myopathy With Early Respiratory Failure
Gait disturbance, Neck flexor weakness, Muscle fiber splitting, Falls, Type 1 muscle fiber predom... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Proximal muscle weakness, Fatty replacement of sk... OMIM:618848
Welander Distal Myopathy
Distal amyotrophy, Steppage gait, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Scapular winging, Centrally nucleated skeletal... OMIM:612999
Myopathy, Myofibrillar, 3
Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myof... OMIM:609200
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... OMIM:617760
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... OMIM:614065
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skeletal muscle, Z-band... OMIM:618823
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... OMIM:117000
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... OMIM:608358
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy ORPHA:270
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Z... OMIM:619178
Myopathy, Scapulohumeroperoneal
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Difficulty walking, Distal... OMIM:601954
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Shoulder girdle muscle weakness, Autophagic vacuoles, Reduced maximal inspirat... ORPHA:266
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance, Difficulty walking, Muscle weakness OMIM:616304
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Congenital Myopathy 18
Increased endomysial connective tissue, Centrally nucleated skeletal muscle fibers, Increased var... OMIM:620246
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal weakness, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of fa... OMIM:181400
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive proximal muscle weakness, Autophagic vacuoles, Facial diplegia, Difficulty walking, R... ORPHA:399058
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... ORPHA:34516
Bethlem Myopathy 1
Camptodactyly of finger, Torticollis, Myopathy, Skeletal muscle atrophy, Congenital muscular tort... OMIM:158810
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibe... OMIM:615422
Myasthenic Syndrome, Congenital, 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Muscl... OMIM:616228
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... OMIM:618940
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Poor head control, Respiratory insuffici... OMIM:300717
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal muscle weakness, Fiber type grouping OMIM:614369
Distal Myopathy With Anterior Tibial Onset
Progressive proximal muscle weakness, Intrinsic hand muscle atrophy, Neck muscle weakness, Finger... ORPHA:178400
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Unsteady gait, Gowers sign, EMG: myopathic abnormalities, Proximal muscle weakness, Scapular wing... OMIM:608099
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Distal muscle we... OMIM:619042
Nemaline Myopathy 2
Bulbar palsy, Inability to walk, Slender build, Late-onset distal muscle weakness, Type 1 muscle ... OMIM:256030
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Unsteady gait, Myopathy, Gowers sign, Proximal muscle weakness, Muscle weakness, Limb-girdle musc... OMIM:612937
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facial musculature, Proximal m... OMIM:619477
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... OMIM:611705
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Gowers sign, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscle w... OMIM:613204
Congenital Myopathy 6 With Ophthalmoplegia
Myopathy, Neck muscle weakness, Type 1 muscle fiber predominance, Proximal muscle weakness, Scapu... OMIM:605637
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Facial palsy, Proximal muscle weakness in lower limbs, Neck flexor weakness, Ragged-red muscle fi... OMIM:616209
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Neck muscle weakness, Gowers sign, Ophthalmoparesis, Proximal muscle weaknes... OMIM:610542
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Shoulder flexio... OMIM:605355
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Neck muscle weakness, Gowers sign, Myof... ORPHA:97240
Congenital Myopathy 14
Axial muscle weakness, Neck muscle weakness, Type 1 muscle fiber predominance, Weakness of facial... OMIM:618414
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Tip-toe gait, Distal muscle we... OMIM:254130
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, EMG: myopathic abnormalities, Ragged-red muscle fibers OMIM:609283
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, Loss of ambulation, EMG: myo... OMIM:253601
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... ORPHA:86812
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Diabetes mellitus, Skeletal muscle atrophy, Ataxia OMIM:158500
Myopathy, Distal, 1
Tibialis anterior muscle atrophy, Gait disturbance, Distal lower limb muscle weakness, Neck muscl... OMIM:160500
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Congenital Myopathy 8
Weak extraocular muscles, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscl... OMIM:618654
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Creatine Phosphokinase, Elevated Serum
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... OMIM:123320
Klhl9-Related Early-Onset Distal Myopathy
Abnormality of the calf musculature, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities,... ORPHA:399081
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Unsteady gait, Gowers sign, Limb-girdle muscular dystrop... ORPHA:280333
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... OMIM:620068
Congenital Disorder Of Glycosylation, Type Iid
Decreased muscle mass, Myopathy OMIM:607091
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Neck flexor weakness, Distal lower limb muscle weakness,... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Neck muscle weakness,... OMIM:619566
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy, Distal upper limb ... ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of s... OMIM:608807
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Wea... OMIM:160565
Neuropathy, Hereditary Motor, With Myopathic Features
Lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness... OMIM:619216
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... OMIM:616313
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Shoulder girdle muscle weakness, Muscle fiber splitting, Difficulty walki... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Muscular dystrophy, EMG: myopathic ab... OMIM:611307
Congenital Myopathy 23
Facial diplegia, Difficulty walking, Neck muscle weakness, Type 1 muscle fiber predominance, Gowe... OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... OMIM:616924
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Proximal muscle weakness, Increased variability in muscle f... OMIM:611615
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapuloperoneal weakness, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypert... OMIM:300696
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Inability to walk, Gait disturbance, Intrinsic hand musc... ORPHA:276435
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skeletal muscle f... OMIM:617066
Distal Nebulin Myopathy
Slender build, Neck flexor weakness, Sternocleidomastoid amyotrophy, Progressive proximal muscle ... ORPHA:399103
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Scapuloperoneal Myopathy, X-Linked Dominant
Lower limb muscle weakness, Forearm supination contracture, Skeletal muscle atrophy, Knee flexion... OMIM:300695
Congenital Myopathy With Myasthenic-Like Onset
Rhabdomyolysis, Minicore myopathy, Myopathy, Type 1 muscle fiber predominance, EMG: myopathic abn... ORPHA:424107
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Increased endom... OMIM:620138
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Respiratory insufficiency d... ORPHA:598
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Shoulder girdle muscle weakness, Muscle fiber splitting, Gowers sign, Muscular dyst... OMIM:603511
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Finnish Upper Limb-Onset Distal Myopathy
Progressive proximal muscle weakness, Intrinsic hand muscle atrophy, Difficulty walking, Steppage... ORPHA:399086
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, Neck muscle weakness, EMG: myopathic abnormalities, Abnormal muscl... ORPHA:488650
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, Steppage gait, EMG: myopathic abnormalities, Distal muscle... OMIM:610099
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Proximal lower limb a... OMIM:310440
Glycogen Storage Disease Ixd
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen... OMIM:300559
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... OMIM:255320
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... ORPHA:206549
Oculopharyngodistal Myopathy 3
Ataxia, Neck muscle weakness, Distal amyotrophy, Weakness of facial musculature, Increased endomy... OMIM:619473
Distal Myotilinopathy
Progressive proximal muscle weakness, Difficulty walking, Abnormal muscle fiber myotilin, Distal ... ORPHA:98911
Congenital Myopathy 3 With Rigid Spine
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Facial palsy, Increased ... OMIM:602771
Nemaline Myopathy 7
Minicore myopathy, Shoulder girdle muscle weakness, Gait disturbance, Neck muscle weakness, Gower... OMIM:610687
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle weakness, Hand ... ORPHA:437572
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Pr... OMIM:617069
Adult-Onset Nemaline Myopathy
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... ORPHA:171442
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Respiratory insufficiency due to muscle ... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Neck flexor weakness, Gowers sign, Proximal muscle weakn... OMIM:618138
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Neck muscle weakness, Respiratory insufficiency due to muscle weakness, Increased m... OMIM:500009
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Myo... OMIM:300580
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Shoulder girdle muscle weakness, Progressive proximal muscle weakness, Myopathy... OMIM:167320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... OMIM:616812
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Facial diplegia, Distal lower limb muscle weakness, Shoulder girdle... OMIM:609284
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Neck flexor weakness, Gowers sign, Tip-toe gait, EMG: myopathic abnormalities, Righ... ORPHA:353
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Incr... ORPHA:486815
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Neck muscle weakne... OMIM:608810
Sandhoff Disease, Adult Form
Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait ataxia, Muscle fiber at... ORPHA:309169
Nemaline Myopathy 8
Flexion contracture, Facial palsy, Myofibrillar myopathy, Nemaline bodies OMIM:615348
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Flexion contracture of finger, Increased endomysial connective ti... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Gowers sign, Type 1 muscle fiber predominance, Muscular dystrophy, Skelet... OMIM:253700
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... ORPHA:59135
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Ataxia, Type 1 muscle fiber predominance, Respiratory insufficiency due to mus... OMIM:618276
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Fiber type grouping, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotro... OMIM:608340
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Slender build, Facial diplegia, Myopathy, Difficulty walking,... ORPHA:171439
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Lower limb muscle weakness, Hypoglycosylation of alpha-dystroglycan, Loss of ambula... OMIM:616052
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Generalized amyotrophy, Myopathy OMIM:618323
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathi... OMIM:255160
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Proximal muscle we... OMIM:617070
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Neck muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Proximal ... OMIM:614302
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... OMIM:300816
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle atrophy... OMIM:619903
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Congenital Myopathy 10A, Severe Variant
Diaphragmatic weakness, Camptodactyly of finger, Poor head control, Diaphragmatic paralysis, EMG:... OMIM:614399
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Congenital Myasthenic Syndromes With Glycosylation Defect
Poor head control, Difficulty walking, Myopathy, Gowers sign, Type 1 muscle fiber predominance, K... ORPHA:353327
Rigid Spine Syndrome
Myopathy, Hamstring contractures, Skeletal muscle atrophy, Hip contracture, Elbow flexion contrac... ORPHA:97244
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Necklace skeletal muscle fibers, Centrally nucleated skeletal mus... ORPHA:596
Amish Nemaline Myopathy
Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder fle... ORPHA:98902
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Gait disturbance, Distal lower limb muscle weakness, Lower limb muscle weakness, Distal amyotroph... OMIM:607684
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle... OMIM:255200
Central Core Disease
Myopathy, Type 1 muscle fiber predominance, Central core regions in muscle fibers, Nemaline bodie... ORPHA:597
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Difficulty walking, Lower limb muscle weakness, Type 1 m... OMIM:613954
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Myasthenic Syndrome, Congenital, 5
Myopathy, Decreased muscle mass, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, L... OMIM:603034
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Unsteady gait, Difficulty walking, Gowers sign, Muscular dystrophy, Hypoglycosylation of alpha-dy... OMIM:613818
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Muscular dystrophy, Skeletal muscle hypertrophy, Proximal muscle weakness, Increased... OMIM:613157
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Bethlem Myopathy
Camptodactyly of finger, Reduced muscle collagen VI, Progressive proximal muscle weakness, Achill... ORPHA:610
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Difficulty walking, Central core regions in muscle fibers, Proximal muscle weakness, Cent... ORPHA:401768
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Failure... OMIM:255310
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Ataxia, Increased variab... OMIM:619065
Congenital Muscular Dystrophy, Ullrich Type
Diaphragmatic weakness, Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abno... ORPHA:75840
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... ORPHA:34515
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, External ophth... OMIM:619790
Congenital Myopathy 15
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... OMIM:620161
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Myopathy, Gowers sign, Pelvic girdle muscle weakness, Waddling gait, Increase... ORPHA:119
Congenital Myopathy 2A, Typical, Autosomal Dominant
Bulbar palsy, Slender build, Neck flexor weakness, Late-onset distal muscle weakness, Type 1 musc... OMIM:161800
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Diaphragmatic weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness... OMIM:601462
Nemaline Myopathy 10
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Nemaline... OMIM:616165
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Muscle weakness, Congenital muscular dystrophy,... OMIM:607855
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Myopathy, Increased muscle glycogen content, Increased muscle lipid content, Ragged... ORPHA:254864
Leber Hereditary Optic Neuropathy
Myopathy ORPHA:104
Dpm3-Cdg
Muscular dystrophy, Muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Calf muscle ... ORPHA:263494
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Proximal amyotrophy, Weakness of orbicularis oculi muscle, Shoulder... ORPHA:2596
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... ORPHA:98905
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Kne... OMIM:310300
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Facial diplegia, Gowers sign, Respiratory insufficiency due to muscle weakness... OMIM:609560
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Type 2 muscle fiber atrophy, Myopathy OMIM:605809
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Alcohol-induce... OMIM:154275
Myopathy, Centronuclear, 5
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Hip contracture OMIM:615959
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Neck muscle weakness, Gowers sign, Weakness of facial musculature, Respiratory insu... OMIM:608930
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Type 1 muscle fiber predominance, EMG: myopathic abnorma... ORPHA:169189
Kearns-Sayre Syndrome
Ataxia, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Anterior hypopituitarism, ... ORPHA:480
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Failure to thrive, Increased variability in muscle fiber diameter OMIM:613752
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Progressive external ophthalmoplegia, Cachexia, Muscle weakness, Generaliz... OMIM:613662
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... OMIM:619542
Distal Anoctaminopathy
Rhabdomyolysis, Peroneal muscle atrophy, Difficulty walking, Distal lower limb muscle weakness, D... ORPHA:399096
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, Difficulty walking... ORPHA:370980
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle weakness, Central... OMIM:606070
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis OMIM:615159
Congenital Myopathy 24
Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, Facial palsy, M... OMIM:617336
Myopathy, Myofibrillar, 8
Joint contracture of the 5th finger, Central core regions in muscle fibers, Nemaline bodies, Scap... OMIM:617258
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, F... OMIM:248800
Myopathy, Myofibrillar, 7
Difficulty walking, Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Should... OMIM:617114
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Episodic flaccid weakness, Adrenocortical adenoma, Pos... ORPHA:681
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Alcohol-induce... OMIM:154276
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Proximal muscle weakness in lower limbs, Hypoglycosylation of alpha-dystroglycan, S... ORPHA:352479
Cap Myopathy
Lower limb amyotrophy, Poor head control, Fatiguable weakness of proximal limb muscles, Lower lim... ORPHA:171881
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Gait disturbance, Unsteady gait, Ataxia, Broad-based gait, Lower limb muscle weakness, Difficulty... OMIM:616479
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Skeletal muscle hypertrophy, Myopathy ORPHA:2349
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Inability to walk, Difficulty walki... ORPHA:206559
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Inability to walk, Ataxia, Increased variability in muscle fiber diameter OMIM:617915
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Scapular winging... ORPHA:169186
Spinal Muscular Atrophy, X-Linked 2
Spinal muscular atrophy, Myopathy, Facial palsy, Flexion contracture, Arthrogryposis multiplex co... OMIM:301830
Combined Oxidative Phosphorylation Deficiency 8
Generalized muscle weakness, Failure to thrive, Increased variability in muscle fiber diameter OMIM:614096
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Progressive proximal muscle weakness, Progressive externa... ORPHA:663
Scapuloperoneal Spinal Muscular Atrophy
Diaphragmatic weakness, Torticollis, Peroneal muscle atrophy, Muscle fiber splitting, Gowers sign... OMIM:181405
Infantile-Onset X-Linked Spinal Muscular Atrophy
Spinal muscular atrophy, Weakness of facial musculature, Inflammatory myopathy, Knee flexion cont... ORPHA:1145
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Ataxia, Weakness of facial musculature, Proximal muscle weakness, Choreoathetosis... OMIM:618416
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, ... ORPHA:206546
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Gowers sign, Skeletal mu... OMIM:608931
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Myopathy ORPHA:2598
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Muscle weakness ORPHA:330054
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Tip-toe gait, Pr... ORPHA:536516
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Slender build, Type 1 muscle fiber predominance, Respira... OMIM:254090
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Increased endomysial connective tissue, Muscular dystrophy, Myopathy OMIM:602541
Duchenne And Becker Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:262
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Myopathy, Increased variability in muscle fiber diameter, Ophthalmoplegia OMIM:125250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Fatty replacement of skeletal... ORPHA:397744
Postsynaptic Congenital Myasthenic Syndromes
Ankle weakness, Fatigable weakness of respiratory muscles, Shoulder girdle muscle weakness, Neck ... ORPHA:98913
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hype... OMIM:609308
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy OMIM:610717
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Distal amyotrophy, Facial palsy, Type 2 muscle fiber atrophy, Type 1 muscle fi... OMIM:617519
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Decreased muscle mass, S... ORPHA:57
Typical Nemaline Myopathy
Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Gait dis... ORPHA:171436
Intermediate Nemaline Myopathy
Facial diplegia, Difficulty walking, Type 1 muscle fiber predominance, Skeletal muscle atrophy, E... ORPHA:171433
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skeletal muscle atrophy, Muscle weak... OMIM:616867
Striatonigral Degeneration, Infantile, Mitochondrial
Paroxysmal choreoathetosis, Ophthalmoparesis, Difficulty walking, Ragged-red muscle fibers OMIM:500003
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:157973
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers OMIM:616794
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Poor head control, Abs... ORPHA:324604
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Steppage gait, Muscle fiber atrophy, Skeletal muscle... OMIM:258450
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Myopathy OMIM:618237
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Fiber type grouping, Plantar flexion contracture, Wrist drop, Distal arthrogryposis, Arthrogrypos... OMIM:620011
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Gowers sign, Muscular dystrophy, Skeletal muscle atrophy, Proximal muscle weakness, Flexion contr... OMIM:613723
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, EMG: myopathic abnorm... ORPHA:206569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Achi... OMIM:608840
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:616470
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Bulbar palsy, Ankle weakness, Shoulder girdle muscle weaknes... ORPHA:600
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsi... OMIM:619574
Congenital Myopathy 16
Flexion contracture, EMG: myopathic abnormalities, Scapular winging OMIM:618524
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Type 2 muscle f... OMIM:254210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Progressive muscle weakness, Gowers sign, Muscular dystrophy, Peroneal muscle weakness, Skeletal ... OMIM:611588
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Congenital contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Failure to thrive, Inc... OMIM:617228
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Failure to thrive, Muscle weakness, Generalized... OMIM:613561
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle muscle weakness, Myopathy OMIM:615156
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Spinocerebellar Ataxia 28
Limb ataxia, Ophthalmoparesis, Gait ataxia, Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:98855
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Facial palsy, Ragged-red ... ORPHA:254886
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Facial diplegia, Intrinsic hand muscle atrophy... ORPHA:329478
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Myopathy, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, F... ORPHA:272
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, ... ORPHA:178148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Abnormality of the thyroid gland, Hypogonadism, Progressive muscle weakness, Di... OMIM:609286
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, EMG: myopathic abnormalities, Proximal muscle weakness, Fatty... ORPHA:52430
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy ORPHA:26792
Myopathy, Myofibrillar, 6
Lower limb muscle weakness, Muscular dystrophy, Knee flexion contracture, Myofibrillar myopathy, ... OMIM:612954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Poor head control, Inability to walk, Ataxia, Muscular dystrophy, Hypoglycosylation of alpha-dyst... OMIM:615350
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Ataxia, Left ventricular noncompaction, Muscle weakness, ... OMIM:252011
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Myopathy OMIM:615980
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy OMIM:232400
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Distal lower limb muscle weakness, Proximal upper limb muscle hypertrophy, Decreased cervical spi... ORPHA:254361
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Lower limb muscle weakness, Upper limb muscle weakness, EMG: myopathic abnormalities, Distal amyo... ORPHA:99939
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle weakness, Broad-based gait, Dysmetria, Fiber type grouping, Myopathy, Ataxia, Weakness of ... OMIM:607459
Myoclonus, Intractable, Neonatal
Athetosis, Increased variability in muscle fiber diameter OMIM:617235
Myopathy With Lactic Acidosis, Hereditary
Rhabdomyolysis, Difficulty walking, Myopathy, Skeletal muscle atrophy, Ophthalmoparesis, Distal m... OMIM:255125
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Dysmetria, Ataxia, Impaired tandem gait OMIM:619028
Arthrogryposis Multiplex Congenita 6
Akinesia, Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fi... OMIM:619334
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... ORPHA:98853
Axial Osteomalacia
Myopathy OMIM:109130
Combined Oxidative Phosphorylation Defect Type 13
Poor head control, Type 1 muscle fiber predominance, Failure to thrive, Type 2 muscle fiber atrop... ORPHA:319514
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy OMIM:618234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Testicular atrophy, Progressive muscle weakness, Neck flexor weakness, Progressiv... OMIM:157640
Lethal Congenital Contracture Syndrome 9
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... OMIM:616503
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy OMIM:300653
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Distal amyotrophy, Increased circulat... OMIM:617675
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Fiber type grouping, Distal amyotrophy, Loss of ambulation, Athetosis, Hypergonadotropic ... OMIM:271245
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Proximal muscle weakness, Distal muscle weakness, Facial palsy, ... OMIM:616720
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Weakness of facial musculature, Skeletal muscle atrophy, Spinal muscular atrophy, Myopathy ORPHA:254875
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Neck flexor weakness, Retrocollis, Ataxia, Distal amyotrophy, Difficulty walki... ORPHA:300605
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Ataxia, Distal amyotrophy, Difficulty walking, Respiratory insufficiency due... OMIM:164310
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Nemaline bodies, Myopathy OMIM:616549
Spastic Paraplegia Type 7
Lower limb muscle weakness, Upper limb muscle weakness, Lower limb hypertonia, Spastic gait, Ragg... ORPHA:99013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atroph... OMIM:606612
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Gait disturbance, Ataxia, Progressive external ophthalmoplegia, Ophthalmoparesis, Muscle weakness... ORPHA:1349
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Failure to thrive in infancy, External ophthalmoplegia, Increased variabilit... OMIM:619026
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Fiber type grouping, Distal lower limb muscle weakness, Difficulty ... OMIM:500013
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... OMIM:615418
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Myopathy, Muscular dystrophy, Muscle fiber atrophy, Proximal muscle weakness,... ORPHA:369840
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Myopathy, Diabetes mellitus, Skeletal muscle hypertrophy, Calf muscle pseudohy... ORPHA:79083
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Generalized amyotrophy, Ragged-red muscle fibers, Myopathy ORPHA:352447
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Progressive external ophthalmoplegia, Hypergonadotropic hypogonadism, Facial... OMIM:615084
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic abnormalities, Flexion con... OMIM:619040
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Knee flexion co... OMIM:619461
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Progressive cerebellar ataxia, Difficulty walking, Increased circulating prolactin concentration,... ORPHA:502423
Neutral Lipid Storage Myopathy
Shoulder girdle muscle weakness, Difficulty walking, Myopathy, Hand muscle weakness, Diabetes mel... ORPHA:98908
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Muscle fiber atrophy, Muscle weaknes... OMIM:616866
Xanthinuria, Type I
Myopathy OMIM:278300
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypergonadotropic h... OMIM:606407
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Familial Partial Lipodystrophy, Dunnigan Type
Myopathy, Diabetes mellitus, Skeletal muscle hypertrophy, Insulin resistance, Abnormality of skel... ORPHA:2348
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Hyperinsulinemia, Proximal muscle weakness, Fail... OMIM:613327
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Hypopituitarism, Progressive muscle weakness, Gowers sign, Scapular winging, Fai... OMIM:600462
Myopathy, Myofibrillar, 1
Facial palsy, EMG: myopathic abnormalities OMIM:601419
Kearns-Sayre Syndrome
Ataxia, Diabetes mellitus, Hypoparathyroidism, Progressive external ophthalmoplegia, Muscle weakn... OMIM:530000
Myotonic Dystrophy 2
Neck flexor weakness, Sternocleidomastoid amyotrophy, Hypogonadism, Weakness of facial musculatur... OMIM:602668
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Myopathy ORPHA:1215
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Bulbar palsy, Poor hea... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Bulbar palsy, Poor hea... ORPHA:98914
Immunodeficiency 10
Myopathy OMIM:612783
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Neuronopathy, Distal Hereditary Motor, Type X
Small thenar eminence, Fiber type grouping, Distal lower limb muscle weakness, Scapular winging, ... OMIM:620080
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, External ophthalmoplegia, Hypergonadotropic hypogonadism, Distal... ORPHA:298
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Flexion contracture, Muscle fiber atrophy, Failure to thrive OMIM:620240
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy ORPHA:713
Optic Atrophy 11
Ataxia, Fiber type grouping, Facial diplegia, Gait apraxia, Athetosis, Increased variability in m... OMIM:617302
Combined Oxidative Phosphorylation Deficiency 19
Poor head control, Failure to thrive, Increased variability in muscle fiber diameter OMIM:615595
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Combined Oxidative Phosphorylation Deficiency 24
Weakness of facial musculature, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy OMIM:616239
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Adrenomyodystrophy
Myopathy ORPHA:977
Sengers Syndrome
Myopathy OMIM:212350
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Hyperglycemia, Joint contracture of the hand OMIM:175700
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Ophthalmoparesis, Abnormal muscle fiber morphology, Facial palsy, Hypogo... ORPHA:3068
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Synaptic Congenital Myasthenic Syndromes
Poor head control, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, Neck muscle ... ORPHA:98915
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:559
Glycogen Storage Disease Vii
Muscle weakness, Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ophthalmoparesis, Proximal muscle weakness, Gait ataxia, Increased variability in muscle fiber di... ORPHA:70595
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle ... ORPHA:171430
Leber Optic Atrophy
Myopathy OMIM:535000
Native American Myopathy
Camptodactyly, Inability to walk, Muscle fiber atrophy, Skeletal muscle atrophy, Muscle weakness,... ORPHA:168572
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Type 1 muscle fiber predominance, Poor head control, Increased variability in muscle fiber diamet... OMIM:612949
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging OMIM:613507
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Hyperkalemic Periodic Paralysis
Flexion contracture, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Myopathy ORPHA:682
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Proximal amyotrophy, Hashimoto thyroiditis, Ophthalmoparesis, Type 2 muscle fiber atroph... OMIM:159400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Distal arthrogryposis, Myopathy ORPHA:42
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Congenital Myopathy 9A
EMG: myopathic abnormalities OMIM:618822
Overlap Myositis
Perifascicular muscle fiber atrophy, Difficulty walking, Distal lower limb muscle weakness, Diabe... ORPHA:206572
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Limb muscle weakness, Limb-girdle muscle weakness, Skeletal muscle atrophy, Myopathy OMIM:112250
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy ORPHA:363400
Danon Disease
Lower limb amyotrophy, EMG: myopathic abnormalities, Proximal muscle weakness, Distal muscle weak... OMIM:300257
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Genetic Recurrent Myoglobinuria
Viral infection-induced rhabdomyolysis, Difficulty walking, Neck muscle weakness, Lower limb musc... ORPHA:99845
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy, Knee flexion contracture, Ske... ORPHA:3208
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Carcinoid Syndrome
Hepatic necrosis, Myopathy ORPHA:100093
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Graves disease, Thyrotoxicosis with toxic multinodular goiter, Episodic flaccid w... ORPHA:79102
Autosomal Dominant Optic Atrophy, Classic Form
Weakness of facial musculature, Skeletal muscle atrophy, Scapular winging, Myopathy ORPHA:98673
Polymyositis
Abnormal muscle fiber morphology, Gait disturbance, Proximal muscle weakness, Weight loss ORPHA:732
Immunodeficiency 9
Myopathy OMIM:612782
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Myopathy OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Myopathy OMIM:604377
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Weakness of facial musculature, Myopathy OMIM:201470
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen content, Myopathy ORPHA:367
Chylomicron Retention Disease
EMG: myopathic abnormalities, Myopathy ORPHA:71
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting OMIM:606408
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Myopathy ORPHA:228305
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers OMIM:619424
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Poor head control, Increased variability in muscle fiber diameter OMIM:616538
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Quadriceps muscle weakness, Hypothyroidism, Ophthalmoplegia, Gait disturbance,... ORPHA:254892
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Scleromyxedema
Hypoperistalsis, Abnormal skeletal muscle morphology, Myopathy ORPHA:167635
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Shoulder girdle muscle weakness, Decreased muscle mass, EMG: myopathic abnormalities, Upper limb ... ORPHA:263297
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ataxia, Loss of ambulation, Hypergonadotropic hypogonadism, Decrease... OMIM:607426
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia OMIM:300887
Primary Lipodystrophy
Skeletal muscle hypertrophy, Myopathy ORPHA:90970
Glycogen Storage Disease Xii
Delayed puberty, Muscle fiber splitting, Myopathy, Muscle weakness, Increased variability in musc... OMIM:611881
Snakebite Envenomation
Rhabdomyolysis, Hypopituitarism, Respiratory paralysis, Muscle fiber necrosis ORPHA:449285
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Congenital Fiber-Type Disproportion Myopathy
Poor head control, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness,... ORPHA:2020
Neuromuscular Oculoauditory Syndrome
Poor head control, Unsteady gait, Calf muscle hypertrophy, Knee flexion contracture, EMG: myopath... OMIM:618733
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Myopathy OMIM:609015
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Xp21 Deletion Syndrome
Decreased muscle mass, Calf muscle hypertrophy, Myopathy ORPHA:261476
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities ORPHA:684
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Myopathy ORPHA:99901
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Absent muscle fiber merosin, Inability to walk, Muscular dystrophy, Intercostal mus... ORPHA:258
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, Shoulder girdle muscle w... ORPHA:98907
Carey-Fineman-Ziter Syndrome
Facial palsy, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Myopathy ORPHA:1358
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimulation test, Proxim... ORPHA:189427
Mcleod Syndrome
Rhabdomyolysis, Myopathy OMIM:300842
Cystinosis
Myopathy ORPHA:213
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Left ventricular hypertrophy OMIM:617713
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Unsteady gait, Skeletal muscle atrophy, Failure to thrive, Increased variability ... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 11
Myopathy OMIM:614922
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Diabetes mellitus, Type 2 muscle fiber atrophy, Failure to thrive OMIM:613845
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Failure to thrive, Ragged-red muscle fibers, Ophthalmoplegia OMIM:614924
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Distal amyotrophy, Progressive external ophthalmoplegia, Cachexia, Ophthalmoparesi... OMIM:603041
Stormorken Syndrome
Myopathy OMIM:185070
Melas
Abnormal mitochondria in muscle tissue, Gait disturbance, Ataxia, Myopathy, Diabetes mellitus, Hy... ORPHA:550
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Idiopathic Camptocormia
Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Fatty replacement of skeletal musc... ORPHA:1320
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased ... OMIM:613150
Hereditary Xanthinuria
Myopathy ORPHA:3467
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Carey-Fineman-Ziter Syndrome 1
Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Facial ... OMIM:254940
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Lethal Congenital Contracture Syndrome 10
Macroglossia, Hypoplasia of the thymus, Torticollis, Increased variability in muscle fiber diameter OMIM:617022
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Renal tubular epithelial necrosis, Myopathy ORPHA:157
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Type 2 muscle fiber atrophy, Type 1 mus... OMIM:619036
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia ORPHA:412035
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired tandem gait, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, EMG: myopathic abn... ORPHA:1900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Localized Scleroderma
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:90289
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Myopathy ORPHA:79086
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Necrotizing myopathy, Acute rhab... ORPHA:423
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy