congenital myopathy 6 (DOID:0080719)
Alliance: disease page
Synonyms: inclusion body myopathy 3; proximal myopathy and ophthalmoplegia
Alt IDs: OMIM:605637, ORDO:79091
Definition: A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.