congenital myopathy 9B (DOID:0081344)
Alliance: disease page
Alt IDs: OMIM:618823
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.