/SLC35A1-congenital disorder of glycosylation

SLC35A1-congenital disorder of glycosylation

Rare Disease

MONDO:0011342

Also Known As

CDG syndrome type IIfCDG-IIfCDG2FCMP-sialic acid transporter deficiencySLC35A1-CDGSLC35A1-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type IIfcongenital disorder of glycosylation type 2fcongenital disorder of glycosylation type IIfCDG IIfSLC35A1-CDG (CDG-IIf)congenital disorder of glycosylation, type IIf

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.