congenital disorder of glycosylation type 2G (CDG2G)

Introduction

Also see congenital disorder of glycosylation

Pathology

• defect in O-glycosylation as well as N-glycosylation

Genetics

• associated with defects in COG1

Clinical manifestations

• failure to thrive,
• generalized hypotonia
• growth retardation
• mild psychomotor retardation

More general terms

• congenital disorder of glycosylation

Database

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