/COG1-congenital disorder of glycosylation

COG1-congenital disorder of glycosylation

Rare Disease

MONDO:0012637

Also Known As

CDG syndrome type IIgCDG-IIgCDG2GCOG1-CDGCOG1-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type IIgcongenital disorder of glycosylation type 2gcongenital disorder of glycosylation type IIgCDG 2GCDG IIgCOG1-CDG (CDG-IIg)Cdgii/Cog1 Cerebrocostomandibular-like syndromecongenital disorder of glycosylation, type IIg

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.