COG5-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
Definition
COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Also known as carbohydrate deficient glycoprotein syndrome type III, CDG syndrome type III, CDG-III, CDG2I, COG5-CDG, COG5-congenital disorder of glycosylation, congenital disorder of glycosylation type 2i, congenital disorder of glycosylation type III — per MONDO