Version: 8.0.0
Date: Tue Jan 28 2025
congenital myopathy 9B
DOID:0081344
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myopathy 9B

Definition
A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A.
Synonyms
None
Cross References
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