/COG4-congenital disorder of glycosylation

COG4-congenital disorder of glycosylation

Rare Disease

MONDO:0013281

Also Known As

CDG syndrome type IIjCDG-IIjCDG2JCOG4-CDGCOG4-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type IIjcongenital disorder of glycosylation type 2jcongenital disorder of glycosylation type IIjCDG IIjCOG4-CDG (CDG-IIj)congenital disorder of glycosylation, type IIj

Definition

COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.