congenital disorder of glycosylation type 2D

Introduction

Also see congenital disorder of glycosylation

Pathology

• hypoglycosylation of glycoproteins

Genetics

• associated with defect in B4GALT1

More general terms

• congenital disorder of glycosylation

Additional terms

• solute carrier family 35 member C1 (SLC35C1, GDP-fucose transporter 1, FUCT1)

Database

• OMIM: https://mirror.omim.org/entry/266265