Term Name:	congenital myopathy 9B
Synonyms:
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.
Ontology:	Human Disease [DOID:0081344]   ( DOID:0081344 )