COG1-congenital disorder of glycosylation
COG1-congenital disorder of glycosylation
Definition
COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Also known as carbohydrate deficient glycoprotein syndrome type IIg, CDG syndrome type IIg, CDG-IIg, CDG2G, COG1-CDG, COG1-congenital disorder of glycosylation, congenital disorder of glycosylation type 2g, congenital disorder of glycosylation type IIg — per MONDO