SLC35A1-CDG (CDG-IIf)
Other Names: CDG IIf; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F ; CDG syndrome type IIf; CMP-sialic acid transporter deficiency; Carbohydrate deficient glycoprotein syndrome type IIf; Congenital disorder of glycosylation type 2f; Congenital disorder of glycosylation type IIf; CDG-IIf; SLC35A1-CDG
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.
NIH genetic and rare disease info[edit source]
SLC35A1-CDG (CDG-IIf) is a rare disease.
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