congenital disorder of glycosylation type 2A; carbohydrate-deficient glycoprotein syndrome type 2

Introduction

Also see congenital disorder of glycosylation

Pathology

• defect in protein N-glycosylation
• under-glycosylated serum proteins
• defects in mannosylation of proteins

Genetics

• associated with defects in MGAT2

More general terms

• congenital disorder of glycosylation

Database

• OMIM: https://mirror.omim.org/entry/212066