autosomal recessive limb-girdle muscular dystrophy type 2O (DOID:0110292)
Alliance: disease page
Synonyms: LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Alt IDs: OMIM:613157, ICD10CM:G71.0, ORDO:206564
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.