congenital disorder of glycosylation type 2F (CDG2F)

Introduction

Also see congenital disorder of glycosylation

Genetics

• associated with defects in SLC35A1

More general terms

• congenital disorder of glycosylation

Additional terms

• CMP-sialic acid transporter (CST, CMP-Sia-Tr, CMP-SA-Tr, solute carrier family 35 member 1, SLC35A1)

Database

• OMIM: https://mirror.omim.org/entry/603585