Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin alpha 7
Synonyms:
[a]7,  alpha7

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 Itga7 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 Itga7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:613204
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Kyphoscoliosis, Flexion contracture of finger, Hypoplasia of the musculature, Fl... ORPHA:2020

The table below shows human diseases predicted to be associated to Itga7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Elevated circulating creatine kinase concentration, Lower limb muscle weaknes... OMIM:254130
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... OMIM:617072
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Foot dor... OMIM:601846
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulati... OMIM:604286
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Mildly elevated creatine kinase, Faci... OMIM:617030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Centrally nucleated skeletal muscle fibers, Increased variabilit... OMIM:618992
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:613204
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Elevated circulating creatine kinase concentration... OMIM:605820
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Elevated circulati... ORPHA:611
Miyoshi Muscular Dystrophy 3
Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy, Elevated circulating crea... OMIM:613319
Welander Distal Myopathy
Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weakness, Elevate... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:609115
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concent... OMIM:310095
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulati... OMIM:608810
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Gne Myopathy
Mildly elevated creatine kinase, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabi... ORPHA:602
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... OMIM:608807
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... OMIM:601287
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal amyotrophy OMIM:612998
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated... OMIM:603511
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Dpm3-Cdg
Elevated creatine kinase after exercise, Calf muscle hypertrophy, Muscular dystrophy, Pelvic gird... ORPHA:263494
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Elevated circulating creatine kinase conce... OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly elevated cre... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, ... OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613152
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... ORPHA:267
Muscular Dystrophy, Congenital, Lmna-Related
Congenital muscular dystrophy, Generalized amyotrophy, Elevated circulating creatine kinase conce... OMIM:613205
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber splitting... OMIM:609524
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... OMIM:158901
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal amyotrophy OMIM:612999
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy OMIM:613158
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... ORPHA:1878
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated circulating cre... OMIM:611615
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Distal amyotrophy, Ach... OMIM:609200
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... OMIM:611705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myopathy OMIM:609500
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Myosit... OMIM:615422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase c... OMIM:253600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:616094
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy OMIM:271220
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulating creatine kinase concentrati... OMIM:609308
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy OMIM:618129
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Elevated circulatin... OMIM:616827
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Elevated circula... OMIM:616209
Muscular Dystrophy, Becker Type
Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle pseudohypertr... OMIM:300376
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... ORPHA:178400
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:616516
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Generalized amyotrophy, Myopathy OMIM:618323
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creat... OMIM:607855
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Weakness of orb... OMIM:500002
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle pseudohypertr... ORPHA:62
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... OMIM:615352
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circ... OMIM:123320
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:613869
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... OMIM:612954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... OMIM:615350
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Muscular Dystrophy, Scapulohumeral
Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... OMIM:616471
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Spondylolisthesis, Rimmed vacuoles, Ragged-red muscle fibers, M... ORPHA:270
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... ORPHA:370980
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Elevated circulating creatine kinase concentration, Congenital muscular dystr... OMIM:602541
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, Congenital ... ORPHA:972
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... OMIM:612937
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture, Skel... OMIM:611588
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Elevated circulating creatine k... ORPHA:280333
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Muscular dystrophy, Elevated circulating creatine kinase concentra... OMIM:613151
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Lumbar hyperlordosis, Myopathy OMIM:253320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy OMIM:615041
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Elevated ... OMIM:616924
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase conce... OMIM:613155
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, EMG: myopathic abnormal... OMIM:608840
Multiminicore Myopathy
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... ORPHA:598
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Elevated circulatin... OMIM:158900
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Elevated circul... OMIM:615351
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentration, Lim... ORPHA:369840
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... OMIM:602771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:613154
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Elevated circulat... OMIM:616052
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Elevated circ... OMIM:255160
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, Calf muscle... OMIM:618138
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion... ORPHA:97244
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Scol... OMIM:255200
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Intramuscular hematoma... OMIM:227500
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Weakness of facial musculature, Minicore m... OMIM:610687
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... ORPHA:596
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Scoliosis, Type 1 m... ORPHA:424107
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Duane Anomaly-Myopathy-Scoliosis Syndrome
Scoliosis, Myopathy ORPHA:50817
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:2926
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:614302
Familial Cervical Artery Dissection
Carotid artery dilatation, Transient ischemic attack, Stroke, Carotid artery dissection, Recurren... ORPHA:36382
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Elevated circulating c... OMIM:160500
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... ORPHA:98911
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed v... OMIM:167320
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Scoliosis, Spinal muscular atrophy, D... OMIM:600175
Myopathy, Proximal, With Ophthalmoplegia
Scoliosis, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Myopathy OMIM:605637
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Elevated circulating creatine kinase... OMIM:619518
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis OMIM:611225
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... OMIM:256030
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, Elevated circulatin... OMIM:615980
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
King-Denborough Syndrome
Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Weakness of facial musculature, Minic... OMIM:619542
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated c... OMIM:606070
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Scoliosis, S... OMIM:609284
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness OMIM:617087
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Mildly elevated creat... OMIM:616228
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Bethlem Myopathy
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... ORPHA:610
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Scoliosis, Hyperlordosis, Limb muscle weakness, Decreased muscle mas... OMIM:603034
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Scoliosis, Myopathy OMIM:255100
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... ORPHA:399081
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Elevated circulating creatine... OMIM:615368
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy ORPHA:178145
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated ... OMIM:255310
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Increased serum pyruvate, Myopathy OMIM:545000
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Elevated circulating creatine kinase concentration, Joint cont... OMIM:617258
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Ataxia-Oculomotor Apraxia Type 4
Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy ORPHA:459033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... OMIM:613156
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Increased serum pyruvate OMIM:300816
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... OMIM:619216
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Flexion contracture OMIM:168400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... OMIM:613954
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Elevated ... OMIM:606612
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Myofibrillar my... OMIM:609452
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Marinesco-Sjogren Syndrome
Flexion contracture, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Central... OMIM:248800
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Congenital Factor Ii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... ORPHA:325
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Isolated Glycerol Kinase Deficiency
Scoliosis, Myopathy, Hyperlordosis ORPHA:408
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased serum pyruvate, Elevated circulating c... OMIM:500009
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Skeletal muscle atr... OMIM:617070
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Intramuscular hematoma, Gingival bleeding... OMIM:227600
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis, Myopathy OMIM:618234
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... OMIM:614399
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... ORPHA:597
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Myopathy, Spheroid Body
Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy ORPHA:104
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... OMIM:310300
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... ORPHA:272
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Flexion contracture, Generalized weakness of limb muscles, Limb-girdle musc... ORPHA:353327
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... OMIM:609285
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Kyphosis, Scoliosis, Myopathy ORPHA:2598
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... ORPHA:171439
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... OMIM:254090
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Moderate Hemophilia A
Joint hemorrhage, Hip contracture, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with mi... ORPHA:169805
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase ORPHA:663
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration OMIM:619024
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Subdural hemorrhage, Persistent blee... ORPHA:169802
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Scoliosis, Skeletal muscle atrophy,... OMIM:310440
Myopathy, Congenital, With Tremor
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Scolios... OMIM:618524
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Hyperlordosis ORPHA:352470
Duchenne And Becker Muscular Dystrophy
Hyperlordosis, Skeletal muscle atrophy, Myopathy, Scoliosis ORPHA:262
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... ORPHA:331
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Scoliosis, Spinal muscular atrophy, Arthrogrypo... OMIM:301830
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Elevated circ... ORPHA:206559
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... OMIM:619574
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Short n... ORPHA:178148
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Congenital muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Limb muscle weakness OMIM:601170
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Arthrogryposis m... OMIM:619334
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98855
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Scoliosis, Flexion contracture OMIM:201470
Nemaline Myopathy 8
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture OMIM:615348
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Kyphosis, Neonatal death, Flexion contracture OMIM:618237
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Flexion contracture, Hyperlordosis, Skeletal muscle atrophy, Myopathy ORPHA:157973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615181
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98863
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Myopathy OMIM:307030
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy OMIM:300219
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Abnormal circulating creatin... OMIM:617336
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Skeletal muscle atrophy, Myopathy ORPHA:300179
+173470 integrin, beta-3
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... OMIM:173470
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98853
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... OMIM:616867
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Snakebite Envenomation
Muscle fiber necrosis, Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen... ORPHA:449285
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Increased serum pyruvate OMIM:616794
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... ORPHA:465
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Distal upper limb amyotrophy, Distal lower limb amyotrophy ORPHA:101075
Marinesco-Sjögren Syndrome
Muscular dystrophy, Abnormal circulating creatine kinase concentration, Aplasia/Hypoplasia involv... ORPHA:559
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Episodic hypokalemia... ORPHA:681
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Myopathy And Diabetes Mellitus
Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of orbicularis oculi musc... ORPHA:2596
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Mildly elevate... ORPHA:1145
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613153
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Elevate... OMIM:310200
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Kyphosis, Spinal rigidity, Flexion contracture, Increased varia... ORPHA:171436
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... ORPHA:536516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Elevated... OMIM:607155
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, Elevated creatine kinase after exercise, EMG: myopathic abnormalities, Exer... ORPHA:57
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Weakness of facial musculature, Neuropathic spinal arthropathy, Ragged... ORPHA:352447
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Hematemesis, Subdural hemorrhage, Persistent bleeding after tr... OMIM:202400
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Proximal muscle weakness in lower limbs, Lower limb amyotrophy, Scolio... OMIM:615290
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Elevated circulating creatine kinase concentration, Camptodactyly, Knee flexi... OMIM:608799
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Ske... OMIM:618393
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Cardiomyopathy, Myopathy OMIM:610717
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... ORPHA:206569
Nemaline Myopathy 3
Nemaline bodies, Spinal rigidity, EMG: myopathic abnormalities, Scoliosis, Type 1 muscle fiber pr... OMIM:161800
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... OMIM:613327
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Flexion contracture, Short neck, Thoracolumbar ... OMIM:616549
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy OMIM:618236
Congenital Factor Vii Deficiency
Joint hemorrhage, Bruising susceptibility, Post-partum hemorrhage, Intracranial hemorrhage, Menor... ORPHA:327
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Skeletal muscle atrophy, Scoliosis ORPHA:101078
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615287
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Cap Myopathy
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... ORPHA:171881
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities, Rimmed v... ORPHA:329478
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Macroglossia, Skeletal muscle hypertrophy ORPHA:2349
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Skeletal muscle atrophy OMIM:230650
Sneddon Syndrome
Stroke, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy OMIM:618242
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... ORPHA:853
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexor weakness, Fiber typ... OMIM:620011
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy OMIM:212350
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Congenital foot contractures, Distal amyotrophy ORPHA:3454
Atrial Standstill
Left ventricular noncompaction, Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture ORPHA:1344
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture ORPHA:171719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:615249
Malignant Hyperthermia, Susceptibility To, 2
Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis... OMIM:154275
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, EMG: myopathic abnormalities, Facial palsy, Scoliosis, Type 1 muscle fiber pred... ORPHA:98913
Extracranial Carotid Artery Aneurysm
Stroke, Upper limb muscle weakness, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total... ORPHA:494424
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... OMIM:601462
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... OMIM:258450
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy OMIM:619099
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, El... ORPHA:52430
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... OMIM:608931
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Kyphosis, Progressive... OMIM:181405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage ORPHA:98880
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Weakness of facial musculature, Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Myop... ORPHA:254875
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, Macroglossia, S... ORPHA:370959
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrop... OMIM:619040
Malignant Hyperthermia, Susceptibility To, 3
Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis... OMIM:154276
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Skeletal muscle atr... OMIM:618291
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevation, Foot dorsiflexor we... ORPHA:263297
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... ORPHA:136
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Facial pa... ORPHA:254886
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... OMIM:609813
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Elevated circulating creatine kinase concentration, Abnormal circulating meth... ORPHA:88618
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Elevated circulating creatine k... ORPHA:565899
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Elevated circulating creatine kinase ... OMIM:615418
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Muscle fiber atrophy, Elevated circulating long... ORPHA:228302
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Adrenomyodystrophy
Myopathy OMIM:300270
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... ORPHA:254361
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Glycogen Storage Disease Iii
Cardiomyopathy, Myopathy, Distal amyotrophy OMIM:232400
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Fetal Gaucher Disease
Flexion contracture, Intracranial hemorrhage, Neonatal death, Arthrogryposis multiplex congenita,... ORPHA:85212
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:616538
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... ORPHA:258
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... OMIM:271530
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Increased variability in muscle fiber diameter, Elbow flexion con... OMIM:619461
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Left bundle branch block, Congestive heart failure, Stroke, Sudden cardia... OMIM:115197
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... ORPHA:251274
Adrenal Hypoplasia, Congenital
Muscular dystrophy, Hyponatremia OMIM:300200
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis, Skeletal muscle hypertrophy ORPHA:99014
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Dpm1-Cdg
Muscular dystrophy, Elevated circulating creatine kinase concentration, Knee flexion contracture,... ORPHA:79322
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... ORPHA:53719
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Cardiomyopathy, Myopathy OMIM:617713
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Short neck, Scoliosis, Neonatal death, Arthrogryposis multiplex congen... OMIM:611890
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber ... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber... ORPHA:2348
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, EMG: myopathic abnormalities, Sudden cardiac death, Dilated cardiomyopathy... ORPHA:99901
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... ORPHA:31825
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Aplasia/Hypoplasia involv... ORPHA:899
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Upper limb muscle weakness, Lower limb muscle weakness, Distal amyo... ORPHA:99939
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Stroke, Intracranial hemorrhage ORPHA:140989
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Scoliosis, Myopathy ORPHA:369847
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Kyphoscoliosis, Vertebral wedging, Skeletal muscle hypertrophy OMIM:255710
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Coronary artery atherosclerosis... ORPHA:280679
Dural Sinus Malformation
Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor... ORPHA:97339
Myopathy With Lactic Acidosis, Hereditary
Increased intramyocellular lipid droplets, Rhabdomyolysis, Palpitations, Myopathy OMIM:255125
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, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Facial myokymia OMIM:620007
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Stroke-like episode, Myopathy OMIM:185070
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Glycogen Storage Disease Xii
Hyperbilirubinemia, Increased variability in muscle fiber diameter, Elevated circulating creatine... OMIM:611881
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... OMIM:500013
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic card... ORPHA:464321
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... OMIM:619424
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Venous insuf... ORPHA:624
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Reduced muscle carnitine level, Myopathy, Congestive heart failure OMIM:212140
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Knee flexion contracture OMIM:313420
Hereditary Hemorrhagic Telangiectasia