congenital disorder of glycosylation type IIf (DOID:0070258)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIf; CDG2F; CDG IIf; CDGIIdf; CMP-sialic acid transporter deficiency; SLC35A1-CDG
Alt IDs: OMIM:603585, MESH:C567040, ORDO:238459, UMLS_CUI:C1970344
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.