Version: 8.0.0
Date: Tue Jan 28 2025
congenital myopathy 19
DOID:0081351
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myopathy 19

Definition
A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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