Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calpain 3
Synonyms:
Capa-3,  Capa3,  Lp82,  p94

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Capn3 mutations

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

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

The table below shows human diseases associated to Capn3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, Muscular dystrop... ORPHA:267
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Ele... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Elevated circulating creatine kinase concentration, Myopat... OMIM:618129

The table below shows human diseases predicted to be associated to Capn3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Xiii
Increased muscle glycogen content, Elevated circulating creatine kinase concentration OMIM:612932
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue, Elevated circula... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Myopathy, Distal, 5
Mildly elevated creatine kinase, Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Musc... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, E... OMIM:613530
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... OMIM:253601
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Welander Distal Myopathy
Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging, Elevated circulating creat... OMIM:310095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Centrally nucleated skeletal muscle fibers, Increased ... OMIM:618992
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Highly elevated creatine kinase, ... OMIM:618848
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Miyoshi Muscular Dystrophy 3
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Muscular dystrophy, ... OMIM:613319
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Mildly ele... ORPHA:609
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Muscular dystr... OMIM:613152
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Elevated... OMIM:615422
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Muscular dystro... OMIM:608807
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Mildly elevated creatine kinase, Muscle fiber inclusion bodies, R... OMIM:615424
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Elevated circulating creat... OMIM:608810
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles OMIM:609500
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy, Hypogonadism OMIM:254000
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Elevated circulating creatine kinase concentration, Pelvic girdle muscle weak... ORPHA:34515
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber cytoplasm... OMIM:609524
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Mildly elevated creatine kinase, Distal amyotro... OMIM:610099
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Muscular... OMIM:181350
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Elevated circulating creatine kinase concentration, Muscular dystrophy, Proximal amyotrophy OMIM:612998
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Mildly elevated creatine kinase, Flexion contracture, Shoulder gir... OMIM:609456
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Mildly elevated creatine kinase, Rim... ORPHA:603
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Elevated circulating creatine kinase c... OMIM:601287
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Elevated c... OMIM:618940
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kinase after exercise, Rimme... ORPHA:263494
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Pelvic girdle muscle weakness, Facial palsy, Scapulohumeral muscular dystrophy,... OMIM:158901
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Elev... OMIM:609200
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Mildly elevated c... ORPHA:602
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:616094
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture, Skel... OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy, Gonadal dysgenesis OMIM:615041
Muscular Dystrophy, Scapulohumeral
Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration, Intrinsic hand muscle atrophy, Weakness of th... ORPHA:178400
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Myopathy, Reduced muscle carnitine level OMIM:212160
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Rimmed vacuoles, Elevated circulating creatine kinase... ORPHA:270
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Proximal muscle weakn... ORPHA:457050
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration, Muscular dystrophy, Proximal amyotrophy OMIM:612999
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Elevated circulating creati... OMIM:609308
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Myop... ORPHA:1878
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, Muscular dystrop... ORPHA:267
Muscular Dystrophy, Congenital, Lmna-Related
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Flexion contra... OMIM:613205
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Calf muscle pseudohypertr... OMIM:300376
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Elevated circulati... OMIM:611705
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:309930
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Inc... OMIM:616516
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613869
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle p... ORPHA:280333
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Ele... OMIM:253600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613157
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Muscular dystrophy, Achilles tendon contracture, Calf muscle pseudohypertrophy,... ORPHA:62
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Triangular tongue, Skeletal muscle atrophy, Elevated circulatin... OMIM:616827
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Increased endo... OMIM:607855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Muscular dystrophy, Hypoglycosylation of alph... OMIM:615352
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Elevated circulating creatine ki... OMIM:602541
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Elevated circulating creatine kinase concentration, Myopat... OMIM:618129
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Hypercholestero... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Muscular dystr... OMIM:613151
Myopathy, Distal, 1
Mildly elevated creatine kinase, Type 1 muscle fiber predominance, Amyotrophy of ankle musculatur... OMIM:160500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Elevated circulating creatine kinase concentration, Muscular dystrophy, Hypoglycosylation of alph... OMIM:615350
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Elevated... OMIM:616812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrop... OMIM:611588
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... OMIM:612954
Myopathy, X-Linked, With Postural Muscle Atrophy
Elevated circulating creatine kinase concentration, Scapular winging, Rimmed vacuoles, Flexion co... OMIM:300696
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Facial diplegia... ORPHA:399058
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentrati... OMIM:612937
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Mildly elevated creatine kinase, Wea... ORPHA:399086
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Facial pals... OMIM:613155
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Congenital muscular dystrophy, Mildly elevated... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Proximal Myopathy With Extrapyramidal Signs
Mildly elevated creatine kinase, Centrally nucleated skeletal muscle fibers, Central core regions... ORPHA:401768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613154
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bod... ORPHA:399103
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Multiple joint contractures, Distal... ORPHA:98911
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Abnormal circulating lipi... OMIM:615980
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Limb-girdle muscular dyst... ORPHA:369840
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Elevated circulating creatine kinase concentra... OMIM:609452
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Increased muscle lip... OMIM:500009
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapular winging, Shoulder girdle muscle weakness, Facial palsy, ... OMIM:158900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alph... OMIM:615351
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... OMIM:618484
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Centrally nucleated skeletal muscl... ORPHA:486815
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy OMIM:606768
Myasthenic Syndrome, Congenital, 14
Scapular winging, Mildly elevated creatine kinase, Flexion contracture, Ragged-red muscle fibers,... OMIM:616228
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... OMIM:300718
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Mildly elevated creatine kinase, Fl... ORPHA:171442
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Increased serum pyruvate, Ragged-red muscle fibers OMIM:545000
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies, Failure to thrive OMIM:618246
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Congenital muscular dystrophy, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:614302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Nemaline Myopathy 7
Myofibrillar myopathy, Nemaline bodies, Minicore myopathy OMIM:610687
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:615368
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Skeletal muscle atr... OMIM:617070
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 49
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers OMIM:619024
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Distal lower l... OMIM:609284
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Skeletal mu... OMIM:613156
Central Core Disease
Abnormal circulating creatine kinase concentration, Central core regions in muscle fibers, Pelvic... ORPHA:597
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase ORPHA:663
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Calf muscle hy... ORPHA:119
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... OMIM:255310
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Increased muscle lip... ORPHA:254864
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy OMIM:617336
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy ORPHA:459033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Proximal amyotrophy, ... OMIM:606612
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Failure to thrive in infancy, Increased variability in... OMIM:619065
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Centrally nucleated skeletal muscl... ORPHA:169189
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Hyperuricemia, Skeletal muscle atrophy ORPHA:371
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... ORPHA:169186
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Generalized amyotrophy, Elevated circulating creatine kinase concen... OMIM:609560
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Mi... ORPHA:59135
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Episodic hypokalemia... ORPHA:681
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Limb-girdle muscular dystrophy, Elevated circulating creat... ORPHA:206559
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Mildly elevated creatine kinase, Flexi... OMIM:254090
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Lower limb muscle weakness, Myopat... ORPHA:397744
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Myopathy, Increased mus... OMIM:610717
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Nemaline bodies, Facial palsy OMIM:615348
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Facial palsy, Limb muscle weakness, Congenital muscular dystrophy OMIM:601170
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Mi... ORPHA:1145
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Flexion contracture, Nemaline bodies, Distal amyotrophy, Facial palsy, Hypotrophy of the small ha... OMIM:607684
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615181
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Glycerol Kinase Deficiency
Myopathy, Hypertriglyceridemia, Muscular dystrophy OMIM:307030
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Myopathy, Decreased muscle mass, Limb muscle weakness OMIM:603034
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia ORPHA:2258
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Distal amyotrophy, Generalized amyotrop... OMIM:617519
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets OMIM:612016
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture, Calf... OMIM:310200
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Facial pa... OMIM:608931
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Mildly elevated cr... ORPHA:329478
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Congenital muscular dystrophy, Pelvic girdle muscle weakness, Achilles tendon contr... OMIM:607155
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Marinesco-Sjögren Syndrome
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Aplasia/Hypoplasia involv... ORPHA:559
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:178148
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Muscular dystrophy OMIM:226670
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Increased muscle lipid content, Rhabdomyolysis, Elevated circulating long chain fatty acid concen... ORPHA:228302
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Camptodactyly, Knee flexion contracture, Elevated circulating creatine kinase... OMIM:608799
Nemaline Myopathy 3
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fi... OMIM:161800
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Generalized amyotrophy, Facial pal... OMIM:258450
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Mildly elevated creatine kinase, C... ORPHA:536516
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... ORPHA:206569
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy OMIM:608930
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Generalized amyotrophy, Facial pals... ORPHA:171881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615287
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Muscular dystrophy, Hypogonadotropic hypogonadism, Pre... OMIM:300200
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Elevated circulating creatine kinase concentration, Facia... ORPHA:254886
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Failure to thrive OMIM:614924
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:615249
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Hip flexor weakness, Weakness of the intrinsic hand muscles, Abnorm... ORPHA:98913
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... OMIM:616867
Schisis Association
Small for gestational age, Congenital diaphragmatic hernia ORPHA:63862
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Congenital muscular dystrophy, Skeletal muscle hypertrophy, Hypoglycosylation of al... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contracture, Elevated c... OMIM:613150
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171436
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Proximal amyotrophy OMIM:159400
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Lower limb hypertonia, Lower limb muscle weakness, Upper limb muscle we... ORPHA:99013
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Myopathy, Ragged-red ... ORPHA:352447
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Myopathy, Rhabdomyolysis, Increased intramyoc... OMIM:255125
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Mildly elevated creatine ki... ORPHA:600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Rhabdomyolysis, Highly elevated creatine kinase, Glycogen accu... ORPHA:368
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Distal lower limb amyotro... OMIM:500013
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Muscular dystrophy, Hypermethioninemia, Abnormal... ORPHA:88618
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Generalized amyotrophy, Rimmed vacuoles, Elevated circulating creat... ORPHA:52430
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Weight loss, Distal amyotrophy, Cachexia, Ragged-red muscle fibers OMIM:603041
Atrial Standstill
Muscular dystrophy, Flexion contracture, Left ventricular noncompaction, Skeletal muscle atrophy ORPHA:1344
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Failure to ... ORPHA:319514
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fiber merosin, Fle... ORPHA:258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:616538
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Muscle fiber necrosis, Elevated circulating creatine kinase conc... OMIM:607459
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased total bilirubin, Hyperuricemia OMIM:232800
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Failure to thrive, Congenital diaphragmatic hernia ORPHA:370079
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentration, Rimmed vacuoles OMIM:606070
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Non-Syndromic Posterior Hypospadias
Small for gestational age, Congenital diaphragmatic hernia ORPHA:95706
Lipodystrophy, Congenital Generalized, Type 4
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture, Hypertriglyceridemia, Eleva... OMIM:613327
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Spastic Ataxia 5, Autosomal Recessive
Increased intramyocellular lipid droplets, Skeletal muscle atrophy OMIM:614487
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Aplasia/Hypoplasia involving the skeletal mus... ORPHA:899
13Q12.3 Microdeletion Syndrome
Obesity, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia ORPHA:412035
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... OMIM:157640
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Hyperuricemia, Hypertriglyceridemia, Ca... ORPHA:79083
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Shoulder girdle muscle weakness, Decreased m... ORPHA:263297
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Failure to thrive in infancy, Increased variability in muscle fiber diameter OMIM:619026
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the extraocular muscles, Weight loss, Cachexia, Ragged-red ... ORPHA:298
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber... ORPHA:2348
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... OMIM:616866
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Failure to thrive, Skeletal muscle atrophy... ORPHA:367
Mullegama-Klein-Martinez Syndrome
Failure to thrive, Congenital diaphragmatic hernia OMIM:301022
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia ORPHA:284180
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Type 2 muscle fiber atrophy OMIM:602668
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Autophagic vacuoles, Distal amyotrophy, Facial palsy, Rimmed vacuol... OMIM:164310
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... ORPHA:502423
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers OMIM:607426
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Distal amyotrophy, Cachexia, Skeletal muscle atrop... ORPHA:300605
Matthew-Wood Syndrome
Failure to thrive, Congenital diaphragmatic hernia ORPHA:2470
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture ORPHA:158684
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Hand mu... ORPHA:98908
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Polymyositis
Abnormal muscle fiber morphology, Weight loss ORPHA:732
Neu-Laxova Syndrome
Ambiguous genitalia, Arthrogryposis multiplex congenita, Muscular dystrophy, Flexion contracture,... ORPHA:2671
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:614643
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Congenital muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Elevated circulating... OMIM:253800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Failure to thrive OMIM:613845
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... OMIM:619036
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Wrist flexion contracture, Muscle fiber necrosis, Knee flexion cont... OMIM:618733
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Hyperlipidemia, S... ORPHA:565612
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Myopathy, Mitochondrial, And Ataxia
Elevated circulating creatine kinase concentration, Distal amyotrophy, Increased variability in m... OMIM:617675
Seckel Syndrome 9
Small for gestational age, Congenital diaphragmatic hernia OMIM:616777
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
15Q24 Microdeletion Syndrome
Obesity, Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia ORPHA:94065
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnormality of skeleta... ORPHA:168572
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Mildly elevated crea... ORPHA:79102
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia OMIM:617602
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia OMIM:219100
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Failure to thrive OMIM:124000
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Abnormal penis morphology, Muscular ... ORPHA:2461
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Increased intra... ORPHA:98907
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Weakness of facial musculature, Failure to thrive OMIM:220110
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Failure to thrive, Congenital diaphragmatic hernia ORPHA:261197
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:222448
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Failure to thrive, Congenital diaphragmatic hernia OMIM:618651
Denys-Drash Syndrome
Congenital diaphragmatic hernia OMIM:194080
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia OMIM:613309
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:98914
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia ORPHA:1120
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Type 1 muscle fiber predominance, Type 2 muscle fiber atr... ORPHA:98915
Perlman Syndrome
Large for gestational age, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic... OMIM:267000
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Emanuel Syndrome
Congenital diaphragmatic hernia OMIM:609029
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia OMIM:313850
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Muscular dystrophy, Rhabdomyosarcoma, Vaginal neoplasm ORPHA:1052
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Increased muscle lipid content, Decr... OMIM:608836
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Scapular winging, Increased intramyocellular lipid droplets, Rhabdomy... ORPHA:26791
Congenital Fiber-Type Disproportion Myopathy
Type 1 muscle fiber atrophy, Flexion contracture of finger, Flexion contracture, Weakness of faci... ORPHA:2020
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia ORPHA:1834
2Q37 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia ORPHA:1001
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Congenital con... OMIM:236670
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:2311
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia ORPHA:2260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:253280
Emanuel Syndrome
Multiple joint contractures, Failure to thrive, Congenital diaphragmatic hernia ORPHA:96170
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Achilles tendon contracture, Congenital diaphragmatic her... ORPHA:363528
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Ragged-red muscle fibers, Quadriceps muscle weaknes... ORPHA:254892
Arterial Tortuosity Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:208050
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Czeizel-Losonci Syndrome
Aplasia of the left hemidiaphragm, Posterolateral diaphragmatic hernia ORPHA:2437
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Wrist drop, Decreased muscle mass, Elbow flexion contracture, Limb ... ORPHA:1900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Flexion contracture, Rhabdomyolysis, Skeletal muscle a... ORPHA:17
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Vacterl/Vater Association
Congenital diaphragmatic hernia ORPHA:887
Multiple Pterygium Syndrome, Escobar Variant
Arthrogryposis multiplex congenita, Camptodactyly of toe, Diaphragmatic eventration, Bilateral ca... OMIM:265000
White-Sutton Syndrome
Obesity, Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia ORPHA:1692
Melas
Ragged-red muscle fibers, Myopathy, Failure to thrive, Abnormal mitochondria in muscle tissue ORPHA:550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Large for gestational age, Congenital diaphragmatic hernia OMIM:614080
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia OMIM:618454
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Failure to thrive ORPHA:255210
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:601186
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Trisomy 18
Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia ORPHA:3380
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Fryns Syndrome
Congenital diaphragmatic hernia ORPHA:2059
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia OMIM:618846
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia ORPHA:2092
7Q11.23 Microduplication Syndrome
Obesity, Congenital diaphragmatic hernia ORPHA:96121
Kabuki Syndrome
Obesity, Failure to thrive, Congenital diaphragmatic hernia ORPHA:2322
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Left ventricular hypertrophy, Congenital diaphragmatic hernia OMIM:245600
Pagod Syndrome
Congenital diaphragmatic hernia ORPHA:991
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Heart Defects, Congenital, And Other Congenital Anomalies
Aplasia of the left hemidiaphragm, Failure to thrive, Congenital diaphragmatic hernia OMIM:600001
Aymé-Gripp Syndrome
Camptodactyly, Congenital diaphragmatic hernia ORPHA:1272
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia OMIM:614437
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Failure to thrive in infancy, Congenital di... ORPHA:1308
Distal Monosomy 15Q
Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia ORPHA:1596
Holoprosencephaly
Failure to thrive in infancy, Congenital diaphragmatic hernia ORPHA:2162
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia ORPHA:2255
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy, Decreased body weight OMIM:182250
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:122470
Monosomy 9P
Congenital diaphragmatic hernia ORPHA:261112
Wolf-Hirschhorn Syndrome
Failure to thrive, Congenital diaphragmatic hernia ORPHA:280
Hydrolethalus Syndrome 1
Agenesis of the diaphragm OMIM:236680
Beckwith-Wiedemann Syndrome
Diastasis recti, Macroglossia, Leiomyosarcoma, Rhabdomyosarcoma, Congenital diaphragmatic hernia,... ORPHA:116
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Macroglossia, Aplasia/Hypoplasia of the abdominal wall musculature, Cong... ORPHA:373
Witteveen-Kolk Syndrome
Obesity, Small for gestational age, Congenital diaphragmatic hernia OMIM:613406
Choreoacanthocytosis
Peroneal muscle atrophy, Weight loss, Distal amyotrophy, Myopathy, Muscle fiber atrophy ORPHA:2388
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Congenital diaphragmatic hernia ORPHA:2556
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia ORPHA:2745
Poland Syndrome
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia ORPHA:2911
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia ORPHA:818
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Camptodactyly, Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital di... OMIM:301044
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia OMIM:305600
Simpson-Golabi-Behmel Syndrome, Type 1
Macroglossia, Diastasis recti, Congenital diaphragmatic hernia OMIM:312870
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia ORPHA:199
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia OMIM:135900
Pallister-Killian Syndrome
Obesity, Macroglossia, Flexion contracture, Congenital diaphragmatic hernia 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 Capn3

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 Capn3.

No publications found that use IMPC mice or data for Capn3.

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MGI Allele Allele Type Produced
Capn3tm39441(L1L2_gt0) Targeting vectors
Capn3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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