Agent Commons Collaborative Research

Congenital myopathy

rare
Identifiers
MONDO:0019952 Orphanet:97245
Part of
Myopathy
Also known as
Batten Turner congenital myopathy · myopathy congenital

Subtypes

All diseases Rare only
Disease Subtypes
Congenital structural myopathy 117
TTN-related myopathy 15
Centronuclear myopathy 9
RYR1-related myopathy 5
Bethlem myopathy 4
Ullrich congenital muscular dystrophy 4
Alpha-actinopathy 4
TPM3-related myopathy 3
TPM2-related myopathy 2
Myopathy, proximal, and ophthalmoplegia 2
Reducing body myopathy 2
Tubular aggregate myopathy 2
SCN4A-related myopathy, autosomal recessive 1
TOR1AIP1-related myopathy 1
Bailey-Bloch congenital myopathy
Batten-Turner congenital myopathy
Compton-North congenital myopathy
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
MEGF10-related myopathy
MYH7-related skeletal myopathy
Benign Samaritan congenital myopathy
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital myopathy 10b, mild variant
Congenital myopathy 11
Congenital myopathy 15
Congenital myopathy 18
Congenital myopathy 20
Congenital myopathy 21 with early respiratory failure
Congenital myopathy 22A, classic
Congenital myopathy 22B, severe fetal
Congenital myopathy 25
Congenital myopathy 26
Congenital myopathy 27
Congenital myopathy 28 with rigid spine
Congenital myopathy 29 with contractures
Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy 2c, severe infantile, autosomal dominant
Congenital myopathy 7A, myosin storage, autosomal dominant
Congenital myopathy with reduced type 2 muscle fibers
Cylindrical spirals myopathy
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fingerprint body myopathy
Hyaline body myopathy
Intellectual disability-myopathy-short stature-endocrine defect syndrome
Myopathy with hexagonally cross-linked tubular arrays
Myopathy, congenital proximal, with minicore lesions
Myopathy, congenital, progressive, with scoliosis
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
Myopathy, congenital, with respiratory insufficiency and bone fractures
Myopathy, congenital, with structured cores and z-line abnormalities
Myopathy, congenital, with tremor
Myopathy, myosin storage, autosomal recessive
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

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