COG4-congenital disorder of glycosylation
COG4-congenital disorder of glycosylation
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.
Also known as carbohydrate deficient glycoprotein syndrome type IIj, CDG syndrome type IIj, CDG-IIj, CDG2J, COG4-CDG, COG4-congenital disorder of glycosylation, congenital disorder of glycosylation type 2j, congenital disorder of glycosylation type IIj — per MONDO