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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
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes... OMIM:158600
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, P... OMIM:500002
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira... ORPHA:45448
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... OMIM:618848
Welander Distal Myopathy
Steppage gait, Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness OMIM:616231
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... ORPHA:266
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Muscle weakness, Type 1 muscle fiber predominance OMIM:616304
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... OMIM:181400
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... OMIM:300717
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal muscle weakness, Fiber type grouping OMIM:614369
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... OMIM:619042
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... ORPHA:178400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Proximal muscle weakness, Gowers sign, Unsteady gait, Myopathy, Limb-girdle muscul... OMIM:612937
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal ... OMIM:605637
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p... OMIM:616209
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... OMIM:620386
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Myasthenic Syndrome, Congenital, 12
Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro... OMIM:610542
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Zebra Body Myopathy
Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m... ORPHA:97240
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we... OMIM:254130
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Diabetes mellitus, Ataxia OMIM:158500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Loss of ambulation, Increa... OMIM:253601
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... OMIM:160500
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... ORPHA:399081
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Waddling gait, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flex... ORPHA:280333
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Proxi... OMIM:620389
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... ORPHA:457050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facia... OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Inability to walk, Ragged-red muscle fibers, Increased i... ORPHA:276435
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... ORPHA:598
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle musc... OMIM:603511
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Myopathy, Distal, 3
Distal muscle weakness, Distal amyotrophy, Steppage gait, Muscular dystrophy, Late-onset proximal... OMIM:610099
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Hypoglycemia, Glycogen accumulation in muscle fi... OMIM:300559
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Ophthalmoplegia, Increased variability in mu... OMIM:619473
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Nemaline Myopathy 7
Waddling gait, Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due t... OMIM:610687
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... OMIM:617069
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait a... ORPHA:309169
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... OMIM:300718
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... OMIM:609284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ... OMIM:167320
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Broad-based... ORPHA:353
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Myopathy, Myofibrillar, 2
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... OMIM:608810
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies OMIM:615348
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:620249
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... OMIM:620285
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Ataxia, Respiratory insufficiency due to muscle weakness, Inability to w... OMIM:618276
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... OMIM:253700
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Type 1 mus... OMIM:608340
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... OMIM:620265
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weak... ORPHA:171439
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... OMIM:617070
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... OMIM:614302
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross... OMIM:619903
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... ORPHA:97244
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... OMIM:300816
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... OMIM:614399
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proxima... ORPHA:353327
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Distal muscle weakness, Facial palsy, Flexion contracture, Distal amyotrophy... OMIM:607684
Central Core Disease
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... ORPHA:597
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... OMIM:603034
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Muscle Filaminopathy
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... ORPHA:171445
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc... OMIM:613818
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... OMIM:255310
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, In... ORPHA:401768
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... OMIM:613157
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Ataxia, Failure to thrive in infancy, Increased i... OMIM:619065
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge... ORPHA:75840
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Waddling gait, Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hyp... ORPHA:34515
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... OMIM:619790
Congenital Myopathy 15
Waddling gait, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diamet... OMIM:620161
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Slender build, Proximal muscle w... OMIM:161800
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Gowers sign, Calf muscle hypertrophy, Myopathy, Difficulty walki... ORPHA:119
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... OMIM:616165
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... OMIM:607855
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Leber Hereditary Optic Neuropathy
Myopathy ORPHA:104
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... ORPHA:2596
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... ORPHA:263494
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Gow... OMIM:609560
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154275
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... OMIM:619518
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, ... ORPHA:480
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:613752
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Ataxia, Cachexia, Generalized muscle weakness, Ragged-red m... OMIM:613662
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Ragged-red muscle fibers, Ataxia, Athetosis OMIM:615159
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Congenital Myopathy 24
Waddling gait, Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nem... OMIM:617336
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... OMIM:617258
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... OMIM:248800
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154276
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Adrenocortica... ORPHA:681
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy ORPHA:2349
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Ophthalm... OMIM:616479
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... ORPHA:169186
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy... OMIM:301830
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Hypothyro... ORPHA:663
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Generalized muscle weakness OMIM:614096
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... ORPHA:1145
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Proximal muscle weakness, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Weak... OMIM:618416
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Proximal muscle weakness, Quadriceps muscle weakness, Inability to walk, Generalized muscle weakn... ORPHA:206546
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Proximal muscle weakness, R... OMIM:254090
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Muscle weakness, Abnormal muscle fiber protein expression ORPHA:330054
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Ophthalmoplegia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter OMIM:125250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... ORPHA:98913
Striatonigral Degeneration, Infantile, Mitochondrial
Paroxysmal choreoathetosis, Ragged-red muscle fibers, Difficulty walking, Ophthalmoparesis OMIM:500003
Typical Nemaline Myopathy
Waddling gait, Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fat... ORPHA:171436
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... ORPHA:171433
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoat... OMIM:617519
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:157973
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... ORPHA:324604
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture OMIM:618237
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... OMIM:258450
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Plantar flexion contrac... OMIM:620011
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Proximal muscle weakness, Gowers sign, Flexion contracture, Generalized ... OMIM:613723
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Vocal Cord And Pharyngeal Distal Myopathy
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... ORPHA:600
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Congenital Myopathy 16
EMG: myopathic abnormalities, Scapular winging, Flexion contracture OMIM:618524
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... OMIM:619574
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness OMIM:615156
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... OMIM:254210
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... ORPHA:329478
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph... OMIM:613561
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Ophthalmoparesis, Lower limb hypertonia OMIM:610246
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... ORPHA:254886
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... ORPHA:272
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro... OMIM:612954
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Diabetes mellitus, Proximal muscle weakness, Abnormality of... OMIM:609286
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy ORPHA:26792
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal mu... ORPHA:52430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Poor head control, Ataxia, Inability to walk, Muscular d... OMIM:615350
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompa... OMIM:252011
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy OMIM:615980
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... ORPHA:99939
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... OMIM:255125
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi... OMIM:607459
Axial Osteomalacia
Myopathy OMIM:109130
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Poor head control, Ankle flexion contracture, Choreoathetosis, Lower limb hypert... ORPHA:319514
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy OMIM:618234
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Inability to walk, Increased circulating prolactin concentration, Dysmet... OMIM:617675
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis OMIM:300653
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature ORPHA:254875
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Ataxia, Dysmetria, Impaired tandem gait OMIM:619028
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Ataxia, Proximal muscle weakness, Exte... OMIM:164310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... OMIM:157640
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... OMIM:616720
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Hypergonadotropic hypogonadism, Ataxia, Ophthalmoplegia, Athetosis, Distal amyotrophy, Loss of am... OMIM:271245
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Ataxia, Cachexia, Proximal... ORPHA:300605
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Lower limb muscle we... ORPHA:99013
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy OMIM:616549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Ophthalmoparesis, Gait di... ORPHA:1349
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal upper limb muscle weakness, Difficult... OMIM:500013
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
External ophthalmoplegia, Increased variability in muscle fiber diameter, Flexion contracture, Fa... OMIM:619026
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... OMIM:620278
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Proximal muscle weakness, Myopathy, Limb-girdle muscular dystrophy, Muscular dystr... ORPHA:369840
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy ORPHA:352447
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Abnormality of skeletal musc... ORPHA:79083
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber dia... ORPHA:502423
Mitochondrial Dna Depletion Syndrome 11
Progressive external ophthalmoplegia, Hypergonadotropic hypogonadism, Facial palsy, Ragged-red mu... OMIM:615084
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Neutral Lipid Storage Myopathy
Diabetes mellitus, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of... ORPHA:98908
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... OMIM:619461
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Xanthinuria, Type I
Myopathy OMIM:278300
Spinocerebellar Ataxia With Epilepsy
Myopathy ORPHA:254881
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Abnormality of skeletal muscle fiber size, Insulin resistance, Skeletal muscle... ORPHA:2348
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Insulin resistance, Flexion... OMIM:613327
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Gowers sign, Progressive muscle weakness, Ragged-red muscle fibers, Generalized... OMIM:600462
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy OMIM:601419
Kearns-Sayre Syndrome
Hypoparathyroidism, Progressive external ophthalmoplegia, Diabetes mellitus, Ataxia, Ragged-red m... OMIM:530000
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Myopathy ORPHA:1215
Immunodeficiency 10
Myopathy OMIM:612783
Congenital Myasthenic Syndrome
Waddling gait, Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent ep... ORPHA:98914
Myotonic Dystrophy 2
Neck flexor weakness, Proximal muscle weakness, Insulin insensitivity, Hypogonadism, Generalized ... OMIM:602668
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Distal muscle weakness, Hypogonadotropic hypogonadism, Hypergonadotropic h... ORPHA:298
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture OMIM:620240
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis ORPHA:713
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Increased variability in muscle fibe... OMIM:617302
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:615595
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Adrenomyodystrophy
Myopathy ORPHA:977
Sengers Syndrome
Myopathy OMIM:212350
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Hyperglycemia, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakne... ORPHA:98915
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... ORPHA:559
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Abnormal muscle fiber morph... ORPHA:3068
Leber Optic Atrophy
Myopathy OMIM:535000
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... ORPHA:171430
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness OMIM:232800
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Ragged-red muscle fibers, Gait ataxia, Ophthalmoparesis, Increased vari... ORPHA:70595
Native American Myopathy
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital... ORPHA:168572
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan... OMIM:612949
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:682
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Glycogen Storage Disease Xv
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance OMIM:613507
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Distal arthrogryposis, Myopathy ORPHA:42
Congenital Myopathy 9A
EMG: myopathic abnormalities OMIM:618822
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness ORPHA:228302
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Ophthalmoparesis, Fatigable weakness, Proximal amyotrophy, Type 2 muscle fiber atrophy, ... OMIM:159400
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy ORPHA:363400
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Overlap Myositis
Proximal muscle weakness in upper limbs, Diabetes mellitus, Proximal muscle weakness, Perifascicu... ORPHA:206572
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li... ORPHA:3208
Danon Disease
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... OMIM:300257
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... ORPHA:99845
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Carcinoid Syndrome
Myopathy, Hepatic necrosis ORPHA:100093
Immunodeficiency 9
Myopathy OMIM:612782
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature ORPHA:98673
Carnitine Deficiency, Systemic Primary
Myopathy, Reduced muscle carnitine level OMIM:212140
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog... ORPHA:79102
Polymyositis
Weight loss, Gait disturbance, Proximal muscle weakness, Abnormal muscle fiber morphology ORPHA:732
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Weakness of facial musculature, Flexion contracture, Myopathy OMIM:201470
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy ORPHA:367
Chylomicron Retention Disease
Myopathy, EMG: myopathic abnormalities 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
Myopathy, Rhabdomyolysis ORPHA:228305
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities OMIM:620326
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, Hypothyro... ORPHA:254892
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Scleromyxedema
Myopathy, Abnormal skeletal muscle morphology, Hypoperistalsis ORPHA:167635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy OMIM:616538
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... ORPHA:263297
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Ataxia, Progressive muscle weakness, Ragged-red muscle fibers, Lo... OMIM:607426
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia OMIM:300887
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Mcleod Syndrome
Myopathy, Rhabdomyolysis OMIM:300842
Glycogen Storage Disease Xii
Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle weakness, Muscl... OMIM:611881
Snakebite Envenomation
Respiratory paralysis, Hypopituitarism, Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Mitochondrial Trifunctional Protein Deficiency 1
Myopathy, Rhabdomyolysis OMIM:609015
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Neuromuscular Oculoauditory Syndrome
Poor head control, Unsteady gait, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber... OMIM:618733
Xp21 Deletion Syndrome
Calf muscle hypertrophy, Myopathy, Decreased muscle mass ORPHA:261476
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities ORPHA:684
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy ORPHA:1358
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, EMG: myopathic abnormalities ORPHA:99901
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, EMG: myopathic abnormalities, Shoulder girdle muscle weakness, Increased intramyocellul... ORPHA:98907
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Macr... ORPHA:258
Cystinosis
Myopathy ORPHA:213
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy OMIM:617713
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Hypoglycemia, Ragged-red muscle fibers, Flexion contracture, Rhabdomyoly... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 11
Myopathy OMIM:614922
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Ragged-red muscle fibers,... OMIM:603041
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Type 2 muscle fiber atrophy, Diabetes mellitus OMIM:613845
Stormorken Syndrome
Myopathy OMIM:185070
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Ophthalmoplegia, Ragged-red muscle fibers, Poor head control OMIM:614924
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Melas
Hypoparathyroidism, Progressive external ophthalmoplegia, Diabetes mellitus, Hypogonadotropic hyp... ORPHA:550
Idiopathic Camptocormia
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... ORPHA:1320
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Hereditary Xanthinuria
Myopathy ORPHA:3467
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... OMIM:254940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Rhabdomyolysis, Renal tubular epithelial necrosis ORPHA:157
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis, Hypoplasia of the thymus OMIM:617022
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con... OMIM:619036
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... ORPHA:423
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Generalized muscle weakness, Elbow flexion contracture, Impaired tandem ga... ORPHA:1900
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:90289
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... ORPHA:280365
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness ORPHA:746
Usher Syndrome
Myopathy ORPHA:886
Acquired Generalized Lipodystrophy
Myopathy, Calf muscle pseudohypertrophy ORPHA:79086
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy OMIM:115197
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Myopathy OMIM:615512
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Congenital Myopathy 17
Diaphragmatic eventration, Distal arthrogryposis, Myopathy OMIM:618975
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Poor head control, Ataxia, Hypoglycemia, Ragged-red muscle fibers, Incre... OMIM:252010
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:1120
Musculocontractural Ehlers-Danlos Syndrome
Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy ORPHA:2953
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Patent ductus arteriosus, Myopathy, Type 1 muscle fiber predominance OMIM:614557
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture ORPHA:371364
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy ORPHA:85450
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Ragged-red muscle fibers, Gait ataxia, Ophthalmoparesis, Failure to thrive, Muscle weakness ORPHA:255210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Leigh Syndrome
Myopathy, Multiple joint contractures, Skeletal muscle atrophy ORPHA:506
Barth Syndrome
Skeletal myopathy OMIM:302060
Zaki Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:619648
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:109
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Stromme Syndrome
Myopathy OMIM:243605
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ataxia, Hypoglycemia, Rhabdomyolysis, Ragged-red muscle fibers, Recurrent hypoglycemia, Hyperglyc... OMIM:124000
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy OMIM:307030
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Achilles tendon contracture, Congenita... ORPHA:363528
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Trisomy 1Q
Patent ductus arteriosus, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Emanuel Syndrome
Patent ductus arteriosus, Joint contracture, Torticollis, Congenital diaphragmatic hernia OMIM:609029
Thoracoabdominal Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:313850
Multiple Endocrine Neoplasia, Type Iib
Myopathy OMIM:162300
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia OMIM:219100
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop... ORPHA:800
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:222448
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:2311
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia ORPHA:1834
Wolfram Syndrome
Myopathy ORPHA:3463
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Myopathy OMIM:261740
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Alpha-Mannosidosis, Infantile Form
Macroglossia, Facial hypotonia, Myopathy ORPHA:309282
Emanuel Syndrome
Patent ductus arteriosus, Multiple joint contractures, Congenital diaphragmatic hernia ORPHA:96170
Vici Syndrome
Left ventricular hypertrophy, Myopathy OMIM:242840
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Halperin-Birk Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Myopathy, Patent ductus arteriosus OMIM:612541
Caribbean Parkinsonism
EMG: myopathic abnormalities ORPHA:97355
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness ORPHA:14
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:251071
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:1001
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
EMG: myopathic abnormalities, Acute rhabdomyolysis ORPHA:480864
White-Sutton Syndrome
Patent ductus arteriosus, Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:536545
Neurodegeneration With Brain Iron Accumulation 1
Myopathy, Decreased muscle mass OMIM:234200
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Flexion contracture, Myopathy ORPHA:3042
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial musculature, Fle... OMIM:265000
Vacterl/Vater Association
Congenital diaphragmatic hernia ORPHA:887
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:601186
Oligomeganephronia
Congenital diaphragmatic hernia ORPHA:2260
Mosaic Trisomy 1
Elbow flexion contracture, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1692
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Arterial Tortuosity Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:208050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:614080
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy OMIM:219800
Choreoacanthocytosis
Distal muscle weakness, Peroneal muscle atrophy, Weight loss, Myopathy, Distal amyotrophy, Falls,... ORPHA:2388
Fryns Syndrome
Congenital diaphragmatic hernia ORPHA:2059
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:245600
Focal Dermal Hypoplasia
Camptodactyly of finger, Patent ductus arteriosus, Diastasis recti, Congenital diaphragmatic hernia ORPHA:2092
Meacham Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:3097
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Flexion contracture, Macroglos... ORPHA:365
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:618454
1P36 Deletion Syndrome
Myopathy, Patent ductus arteriosus, Camptodactyly of finger ORPHA:1606
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:3380
Aymé-Gripp Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Singleton-Merten Syndrome 1
Waddling gait, Decreased body weight, Muscle fiber atrophy, Tendon rupture, Muscle weakness OMIM:182250
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia OMIM:618846
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:96121
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:122470
Opitz Gbbb Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:2745
Dermatomyositis
Inflammatory myopathy ORPHA:221
Pagod Syndrome
Congenital diaphragmatic hernia ORPHA:991
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia OMIM:600001
Holoprosencephaly
Congenital diaphragmatic hernia ORPHA:2162
Williams Syndrome
Macroglossia, Patent ductus arteriosus, Myopathy ORPHA:904
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:154400
Monosomy 9P
Congenital diaphragmatic hernia ORPHA:261112
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia OMIM:614437
Distal Deletion 15Q
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:1596
Simpson-Golabi-Behmel Syndrome
Macroglossia, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Cong... ORPHA:373
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:818
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia ORPHA:280
Poland Syndrome
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia ORPHA:2911
Hydrolethalus Syndrome 1
Agenesis of the diaphragm OMIM:236680
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia ORPHA:1308
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:2255
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia ORPHA:116
Proteus Syndrome
Myofibrillar myopathy, Decreased muscle mass ORPHA:744
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia ORPHA:2556
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia OMIM:157800
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:618280
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia OMIM:305600
Coffin-Siris Syndrome 1
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:135900
Simpson-Golabi-Behmel Syndrome, Type 1
Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Patent ductus arteriosus, Mac... OMIM:312870
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia ORPHA:199
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the 4th finger OMIM:613406
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion contracture, Macroglossia, Cam... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Col6a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Col6a1.

No publications found that use IMPC mice or data for Col6a1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Col6a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col6a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Col6a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Col6a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col6a1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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