COG1-congenital disorder of glycosylation

MONDO:0012637

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: CDG syndrome type IIg, CDG-IIg, CDG2G, COG1-CDG, COG1-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type IIg, congenital disorder of glycosylation type 2g, congenital disorder of glycosylation type IIg

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