SLC35A1-congenital disorder of glycosylation
SLC35A1-congenital disorder of glycosylation
Definition
SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Also known as carbohydrate deficient glycoprotein syndrome type IIf, CDG syndrome type IIf, CDG-IIf, CDG2F, CMP-sialic acid transporter deficiency, congenital disorder of glycosylation type 2f, congenital disorder of glycosylation type IIf, SLC35A1-CDG, SLC35A1-congenital disorder of glycosylation — per MONDO