/COG8-congenital disorder of glycosylation

COG8-congenital disorder of glycosylation

Rare Disease

MONDO:0012635

Also Known As

CDG syndrome type IIhCDG-IIhCDG2HCOG8-CDGCOG8-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type IIhcongenital disorder of glycosylation type 2hcongenital disorder of glycosylation type IIhCDG IIhCOG8-CDG (CDG-IIh)congenital disorder of glycosylation, type IIh

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.