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,  p94,  Lp82,  Capa3

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
Pelvic girdle amyotrophy, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, An... ORPHA:267
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Proximal amyotroph... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... 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
Elevated circulating creatine kinase concentration, Increased muscle glycogen content OMIM:612932
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Flexion contracture, Increased endomysial connective tissue, Muscular dystrophy, Ankle flexion co... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Elevated circulating creatine kinase concentr... OMIM:613530
Myopathy, Distal, 5
Muscle fiber splitting, Mildly elevated creatine kinase, Myopathy, Distal amyotrophy, Facial pals... OMIM:617030
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Elevated circulating creat... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: ... OMIM:253601
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Welander Distal Myopathy
Rimmed vacuoles, Mildly elevated creatine kinase, Distal amyotrophy OMIM:604454
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... OMIM:605820
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Proximal amyotro... OMIM:604286
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration, Muscular dystrophy, Scapular winging, Shoulde... OMIM:310095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centrally nuclea... OMIM:618992
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating cr... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, 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, Muscular dystrophy, Calf muscle hypertrophy, ... OMIM:613319
Muscular dystrophy, limb-girdle, type 2R
Facial palsy, Elbow flexion contracture, Muscular dystrophy, Scapular winging OMIM:615325
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Elevated circulating creatine ki... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circula... OMIM:611307
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Congenital muscular dystrophy, Arthrogryposis multiplex congenita OMIM:253900
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Elevated circulating creatine kinase concentration, Muscular dystrophy, EMG: myopathic abnormalit... OMIM:608807
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dys... ORPHA:34515
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Congenital muscular dystrophy OMIM:254000
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Distal amyotro... OMIM:610099
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration OMIM:609500
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609524
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:613152
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:181350
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Elevated circulating creatine kinase concentration, Muscular dystrophy, Proximal amyotrophy OMIM:612998
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300717
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Proximal amyotrophy, Elevated circulating creatine kinase concentration, Scap... OMIM:601287
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Dpm3-Cdg
Muscular dystrophy, Elevated creatine kinase after exercise, Calf muscle hypertrophy, Rimmed vacu... ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Foot dorsiflexor weakness, Scapulohumeral muscular dystrophy, Facial palsy, Scapular winging, Pel... OMIM:158901
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, ... OMIM:615422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture, Skel... OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:616094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy, Gonadal dysgenesis OMIM:615041
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Distal amyotroph... OMIM:609200
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
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Elevated circulating... OMIM:500002
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle hypertrophy, Pecto... OMIM:604801
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Myopathy, Rimmed va... ORPHA:270
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... 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
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Muscular dystrop... OMIM:609308
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:123320
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pelvic girdle amyotrophy, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, An... ORPHA:267
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Incr... ORPHA:1878
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Calf muscle pseudohypertr... OMIM:300376
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Salih Myopathy
Flexion contracture, Elevated circulating creatine kinase concentration, Myopathy, Facial palsy, ... OMIM:611705
Muscular Dystrophy, Congenital, Lmna-Related
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Flexion contracture, ... OMIM:613205
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Proximal amyotroph... OMIM:253600
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:309930
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Inc... OMIM:616516
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Eleva... OMIM:255160
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613869
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... ORPHA:280333
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613157
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
Achilles tendon contracture, Muscular dystrophy, Elevated circulating creatine kinase concentrati... ORPHA:62
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Muscular dystrophy, Macroglossia, Elevated circulating creatine kinase c... OMIM:616827
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Increased endomysial connective tissue, Flexi... OMIM:607855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Elevated c... OMIM:616052
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:615352
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystrophy, Elevated... OMIM:253700
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Elevated circulating creatine kinase concentra... OMIM:602541
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:615350
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Hypercholesterolemia, Intrinsic hand muscle atrophy, Incr... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Muscular dystrophy, Congenital muscular dystr... OMIM:613151
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, E... OMIM:616812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrop... OMIM:611588
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Knee flexion contractur... OMIM:612954
Myopathy, X-Linked, With Postural Muscle Atrophy
Elevated circulating creatine kinase concentration, Rimmed vacuoles, Scapular winging, Flexion co... OMIM:300696
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Elevated circulat... OMIM:612937
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Limb-girdle muscle atrophy, Congenital muscular dystrophy, Reduced m... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Flexion contracture, Congenital muscular dystrophy, Muscular dystrophy, Macroglossia, Elevated ci... OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... OMIM:616471
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613154
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Mildly ele... ORPHA:401768
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Elevat... ORPHA:98911
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy, Abnormal circulating creatine kinas... ORPHA:369840
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Myopathy, Myofibrillar, 4
Muscle fiber splitting, EMG: myopathic abnormalities, Autophagic vacuoles, Elevated circulating c... OMIM:609452
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Elevated circulating creatine kinase con... OMIM:158900
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Flexion contracture, Congenital muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Musc... OMIM:615351
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased serum pyruvate, Increased muscle li... OMIM:500009
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Rimmed vacuoles, Centrally nucleated skeletal... OMIM:619518
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy OMIM:606768
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Mildly elevated creat... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300718
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy, Increased serum pyruvate OMIM:545000
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of finger, Muscular dystroph... ORPHA:2926
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:614302
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Congenital muscular dystrophy, Decreased testicular size ORPHA:1875
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Bethlem Myopathy
Achilles tendon contracture, Foot dorsiflexor weakness, Flexion contracture, Multiple joint contr... ORPHA:610
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Flexion contracture, Centrally nucleated skel... OMIM:615368
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lipid c... OMIM:615980
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Decreased circulating ferritin concentration ORPHA:330054
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... 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
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Muscular dystrophy, Macroglossia, Elevated ci... OMIM:613156
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pals... OMIM:300580
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Combined Oxidative Phosphorylation Deficiency 49
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers OMIM:619024
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Generalized amyotrophy, Joint contracture of the 5t... OMIM:617258
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic abnormalitie... OMIM:609284
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Elevated circulat... ORPHA:597
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Mildly elevated creatine kinase, Abnormal mitochondria in muscle tissue ORPHA:663
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormalities, Type 1 muscle fiber... ORPHA:424107
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... ORPHA:119
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration,... OMIM:248800
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Elevated circulating creatine kinase concent... OMIM:619542
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Decreased plasma carnitine, Mildly elevated creatine kinase, Macrogloss... ORPHA:254864
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Nemaline bodies, Scapular winging OMIM:617336
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Congenital muscular dystrophy, Shoulder girdle muscle atrophy, EMG: ... OMIM:606612
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Progressive distal muscular atrophy, Muscular dystrophy ORPHA:459033
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Elevated circulat... OMIM:167320
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy ORPHA:238329
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Generalized amyotrophy, Facial diplegia, Type 1 muscle fiber predominance, Hip ... ORPHA:169186
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... ORPHA:75840
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Myopathy, Campt... ORPHA:272
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop... ORPHA:206559
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Laing Early-Onset Distal Myopathy
Minicore myopathy, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, EMG: myopa... ORPHA:59135
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Congenital muscular dystrophy, Muscle fiber necrosis, Generalized amyotrophy... OMIM:254090
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, EMG: myopathic ... ORPHA:169189
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Abnormal muscle fiber morphology, Increase... ORPHA:681
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Elevated cir... ORPHA:206546
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Facial palsy, EMG: myopathic abnormalities, Congenital muscular dystrophy, Limb muscle weakness OMIM:601170
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Increased muscle lipid content, Myopathy, Hyp... OMIM:610717
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, Weakness of f... OMIM:610687
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diameter, Facial dipl... ORPHA:171439
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... OMIM:617114
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, Hyperkalemia, EMG: myopathic abnormali... ORPHA:57
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Nemaline Myopathy 8
Facial palsy, Nemaline bodies, Flexion contracture, Myofibrillar myopathy OMIM:615348
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized weakness ... ORPHA:353327
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Genera... ORPHA:324604
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615181
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Triceps weakness, Foot dorsiflexor weakness, Centrally nucleated s... OMIM:619574
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Hypotrophy of the small hand mus... OMIM:607684
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Myopathy OMIM:307030
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Generalized amyotrophy, Ankle flexion contracture, Type 1 muscle fib... OMIM:617519
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Decreased muscle mass, Myopathy, Limb muscle weakness OMIM:603034
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture, Calf... OMIM:310200
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets OMIM:612016
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, EMG: myopathic abnormalities, Type... ORPHA:171433
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Pelvic girdle muscle weakness, Congenital muscular dystrophy, Thigh ... OMIM:607155
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial ... OMIM:608931
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy,... ORPHA:329478
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Muscular dystrophy, Myopathy, Abnormal circulating creatine kinase conce... ORPHA:559
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy OMIM:226670
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Hand muscle weakness, Elevated circulating creati... OMIM:606070
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Knee flexion contracture, Elevated circulating cre... OMIM:608799
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Elevated circulating acylcarnitine concentration, Elevated circulating creatine k... ORPHA:228302
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrophy, Peroneal muscle weak... OMIM:181405
Nemaline Myopathy 3
Nemaline bodies, Slender build, EMG: myopathic abnormalities, Limb muscle weakness, Type 1 muscle... OMIM:161800
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Flexion contracture, Arthrogryposis mu... ORPHA:178148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Increased variability in... OMIM:258450
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Obesity, EMG: myo... OMIM:615418
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Generalized amyotrophy, Increased variability ... ORPHA:171881
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Muscular dystrophy, Oligospermia, Pre... OMIM:300200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615287
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy,... OMIM:607459
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita OMIM:608930
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Hand muscle weakness, Elevated circulating creatine kinase concentratio... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Failure to thrive OMIM:614924
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fibers, Abnormal mitochond... OMIM:252011
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:615249
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Art... OMIM:616867
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Abnormality of the musculature of the upper limbs, Abnorm... ORPHA:98913
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98853
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Schisis Association
Congenital diaphragmatic hernia, Small for gestational age ORPHA:63862
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Reduced muscle fiber alph... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Macroglossia, Elevated circul... OMIM:613150
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Muscular dystrophy, Hypermethioninemia, Elevated circulating creatine kinase... ORPHA:88618
Typical Nemaline Myopathy
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Limb-girdle muscle weakness, Inc... ORPHA:171436
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Elevated circulating creatine kinase concentrat... ORPHA:352447
Spastic Paraplegia Type 7
Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Upper limb muscle we... ORPHA:99013
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy, Increased intramyoc... OMIM:255125
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Thenar muscle atrophy, Interosseus muscle atrophy, Fiber type grouping, Distal lower limb muscle ... OMIM:500013
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Proximal amyotrophy OMIM:159400
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Highly elevated creatine kinase, Elevated circulating cr... ORPHA:368
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Mildly elevated creatine kinase, Abnormal morphology of m... ORPHA:600
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Weight loss OMIM:603041
Atrial Standstill
Muscular dystrophy, Left ventricular noncompaction, Flexion contracture, Skeletal muscle atrophy ORPHA:1344
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalit... ORPHA:52430
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Flexion contracture, Congenital muscular dystrophy, Absent muscle fiber merosin, Highly... ORPHA:258
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Combined Oxidative Phosphorylation Defect Type 13
Type 2 muscle fiber atrophy, Ankle flexion contracture, Type 1 muscle fiber predominance, Lower l... ORPHA:319514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:616538
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Knee flexion contractu... OMIM:619461
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased total bilirubin, Hyperuricemia OMIM:232800
Dpm1-Cdg
Elevated circulating creatine kinase concentration, Camptodactyly, Muscular dystrophy, Knee flexi... ORPHA:79322
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Proximal 16P11.2 Microduplication Syndrome
Failure to thrive, Decreased body mass index, Congenital diaphragmatic hernia ORPHA:370079
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration, Skel... OMIM:613327
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Small for gestational age ORPHA:95706
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal circulating c... ORPHA:899
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Abnormality of the diaphragm, Type... ORPHA:171430
Spastic Ataxia 5, Autosomal Recessive
Skeletal muscle atrophy, Increased intramyocellular lipid droplets OMIM:614487
13Q12.3 Microdeletion Syndrome
Camptodactyly, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:412035
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Increas... OMIM:157640
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Hyperuricemia, Myopathy, Skeletal muscle hypertrophy, ... ORPHA:79083
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy OMIM:619026
Mitochondrial Neurogastrointestinal Encephalomyopathy
Foot dorsiflexor weakness, Abnormality of the extraocular muscles, Ragged-red muscle fibers, Cach... ORPHA:298
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Foot dorsiflexor weakness, Decreased muscle glycogen content, EMG: myopathic abnormalities, Upper... ORPHA:263297
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Generalized amyotrophy, Increased variability in muscle fiber diameter, Diap... OMIM:616866
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Type 2 muscle fiber atrophy, Viral infection-induced rha... ORPHA:99845
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myo... ORPHA:2348
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen content, Failure to thrive... ORPHA:367
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness OMIM:609286
Mullegama-Klein-Martinez Syndrome
Failure to thrive, Congenital diaphragmatic hernia OMIM:301022
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Elevated circulating creatine kinase concentration OMIM:602668
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity ORPHA:284180
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Contractures of the joints of the lower limbs, Cachexia, Distal amyotrop... ORPHA:300605
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers OMIM:607426
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, EMG: m... ORPHA:502423
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
Matthew-Wood Syndrome
Failure to thrive, Congenital diaphragmatic hernia ORPHA:2470
Neu-Laxova Syndrome
Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy, External genital hypoplasia, Ar... ORPHA:2671
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Elevated circulating creatine kinase concentration, Facial palsy, Type 1 fibers relatively smalle... OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:614643
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Neutral Lipid Storage Myopathy
Foot dorsiflexor weakness, Hand muscle weakness, Generalized limb muscle atrophy, Myopathy, Abnor... ORPHA:98908
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Snakebite Envenomation
Muscle fiber necrosis, Rhabdomyolysis ORPHA:449285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Congenital muscular dystrophy, Skeletal muscle atrophy, Elevated circulating... OMIM:253800
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
15Q24 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Small for gestational age ORPHA:94065
Oculopharyngodistal Myopathy 1
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorma... OMIM:164310
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Conge... OMIM:619036
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Failure to thrive OMIM:613845
Overlap Myositis
Proximal muscle weakness in upper limbs, Abnormal circulating lipid concentration, Elevated circu... ORPHA:206572
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, EMG: myopathic abnormalities, Knee flexion contracture, Elevated circulati... OMIM:618733
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Idiopathic Camptocormia
Myositis, Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Elevated circulating cre... ORPHA:1320
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Hyperlipidemia, Abnormality of the shoulder girdle musculature, Elevated circu... ORPHA:565612
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Seckel Syndrome 9
Congenital diaphragmatic hernia, Small for gestational age OMIM:616777
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Arthrogryposis multiplex cong... ORPHA:168572
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Myopathy, Mitochondrial, And Ataxia
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:617675
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
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
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Rhabdomyolysis, Transient hypophosphatemia, Lower limb muscle weakness, Hyp... ORPHA:79102
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia OMIM:219100
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Failure to thrive, Rhabdomyolysis OMIM:124000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia ORPHA:1120
Marden-Walker Syndrome
Skeletal muscle atrophy, Abnormal penis morphology, Muscular dystrophy, Arthrogryposis multiplex ... ORPHA:2461
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Myopathy, Abnormal circulating creatine kinase concentration, Incre... ORPHA:98907
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:220110
Halperin-Birk Syndrome
Failure to thrive, Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Di... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Di... ORPHA:98914
Denys-Drash Syndrome
Congenital diaphragmatic hernia OMIM:194080
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber p... ORPHA:98915
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Perlman Syndrome
Large for gestational age, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic... OMIM:267000
Zaki Syndrome
Congenital diaphragmatic hernia OMIM:619648
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Congenital diaphragmatic hernia, Failure to thrive, Congenital finge... ORPHA:363528
Emanuel Syndrome
Congenital diaphragmatic hernia OMIM:609029
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Muscular dystrophy, Rhabdomyosarcoma, Vaginal neoplasm ORPHA:1052
Oligomeganephronia
Congenital diaphragmatic hernia, Small for gestational age ORPHA:2260
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:222448
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia OMIM:313850
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:2311
Congenital Fiber-Type Disproportion Myopathy
Foot dorsiflexor weakness, Flexion contracture, Elbow flexion contracture, Weakness of facial mus... ORPHA:2020
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Elevated circulating acylcarnitine concentration, Skeletal muscle atrophy, Decrea... ORPHA:26791
2Q37 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia ORPHA:1001
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Congenital con... OMIM:236670
Arterial Tortuosity Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:208050
Congenital Ptosis
Increased muscle lipid content, Congenital facial diplegia, Congenital fibrosis of extraocular mu... ORPHA:91411
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:253280
Emanuel Syndrome
Failure to thrive, Multiple joint contractures, Congenital diaphragmatic hernia ORPHA:96170
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Autosomal Dominant Progressive External Ophthalmoplegia
Left ventricular hypertrophy, Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle... ORPHA:254892
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2437
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Flexion contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Increased... ORPHA:17
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, Muscle fiber atrophy, EMG: myopathic abnormalities, Limb muscle weakne... ORPHA:1900
White-Sutton Syndrome
Failure to thrive, Obesity, Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
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
Bilateral camptodactyly, Congenital diaphragmatic hernia, Diaphragmatic eventration, Camptodactyl... OMIM:265000
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:601186
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
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia OMIM:618454
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Failure to thrive, Skeletal muscle atrophy, Increased intramyocellular ... OMIM:252010
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Large for gestational age, Congenital diaphragmatic hernia OMIM:614080
Melas
Ragged-red muscle fibers, Failure to thrive, Myopathy, Abnormal mitochondria in muscle tissue ORPHA:550
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Failure to thrive ORPHA:255210
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia ORPHA:3380
Fryns Syndrome
Congenital diaphragmatic hernia ORPHA:2059
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia OMIM:618846
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Iniencephaly
Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita ORPHA:63259
Focal Dermal Hypoplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, Diastasis recti ORPHA:2092
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
7Q11.23 Microduplication Syndrome
Obesity, Congenital diaphragmatic hernia ORPHA:96121
Kabuki Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Pagod Syndrome
Congenital diaphragmatic hernia ORPHA:991
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Aplasia of the left hemidiaphragm, 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
Distal Monosomy 15Q
Failure to thrive, Congenital diaphragmatic hernia, Small for gestational age ORPHA:1596
Holoprosencephaly
Congenital diaphragmatic hernia, Failure to thrive in infancy ORPHA:2162
C Syndrome
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Failure to... ORPHA:1308
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Small for gestational age ORPHA:2255
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:122470
Wolf-Hirschhorn Syndrome
Failure to thrive, Congenital diaphragmatic hernia ORPHA:280
Singleton-Merten Syndrome 1
Tendon rupture, Decreased body weight, Muscle fiber atrophy OMIM:182250
Hydrolethalus Syndrome 1
Agenesis of the diaphragm OMIM:236680
Monosomy 9P
Congenital diaphragmatic hernia ORPHA:261112
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia ORPHA:2745
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Obesity, Small for gestational age OMIM:613406
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphra... ORPHA:373
Beckwith-Wiedemann Syndrome
Large for gestational age, Diastasis recti, Rhabdomyosarcoma, Obesity, Leiomyosarcoma, Congenital... ORPHA:116
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
Limb Body Wall Complex
Congenital diaphragmatic hernia, Diastasis recti ORPHA:2369
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Congenital diaphragmatic hernia ORPHA:2556
Poland Syndrome
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia ORPHA:2911
Choreoacanthocytosis
Peroneal muscle atrophy, Myopathy, Distal amyotrophy, Muscle fiber atrophy, Weight loss ORPHA:2388
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia ORPHA:818
Cornelia De Lange Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Truncal obesity ORPHA:199
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Diastasis recti OMIM:305600
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia OMIM:135900
Simpson-Golabi-Behmel Syndrome, Type 1
Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Macroglossia, Right ventricul... OMIM:312870
Pallister-Killian Syndrome
Flexion contracture, Obesity, Congenital diaphragmatic hernia, Macroglossia, Camptodactyly of 2nd... 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