COG8-congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
Definition
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
Also known as carbohydrate deficient glycoprotein syndrome type IIh, CDG syndrome type IIh, CDG-IIh, CDG2H, COG8-CDG, COG8-congenital disorder of glycosylation, congenital disorder of glycosylation type 2h, congenital disorder of glycosylation type IIh — per MONDO