congenital disorder of glycosylation 1D (CDG-1D); carbohydrate-deficient glycoprotein syndrome type 4 (CDGS4)

Introduction

Also see congenital disorder of glycosylation

Pathology

• metabolic deficiency in glycoprotein biosynthesis
• under-glycosylated serum glycoproteins

Genetics

• associated with mutation in ALG3 gene

Clinical manifestations

• severe mental retardation
• psychomotor retardation

More general terms

• congenital disorder of glycosylation

Additional terms

• protein glycosylation

Database

• OMIM: https://mirror.omim.org/entry/601110