congenital disorder of glycosylation type IIa (DOID:0070253)
Alliance: disease page
Synonyms: Alkuraya syndrome; carbohydrate-deficient glycoprotein syndrome, type II; CDG2A; CDG IIa; CDGIIa; CDGS2; congenital disorder of glycosylation, type IIa; mental retardation, growth retardation, prominent columella, and open mouth
Alt IDs: OMIM:212066, MESH:C535752, ORDO:79329, UMLS_CUI:C2931008
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.