congenital disorder of glycosylation type IIq (DOID:0070269)
Alliance: disease page
Synonyms: CDG2Q; CDG IIq; CDGIIdq; COG2-CDG; COG2-related congenital disorder of glycosylation
Alt IDs: OMIM:617395, ORDO:435934
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.