Also Known As
CDG syndrome type IIaCDG-IIaCDG2AMGAT2-CDGN-acetylglucosaminyltransferase 2 deficiencycarbohydrate deficient glycoprotein syndrome type IIacongenital disorder of glycosylation type 2acongenital disorder of glycosylation type IIaAlkuraya syndromeCDG 2ACDG IIaCDGS2MGAT2-CDG (CDG-IIa)carbohydrate-deficient glycoprotein syndrome type 2carbohydrate-deficient glycoprotein syndrome, type IIcarbohydrate-deficient glycoprotein syndrome, type II, formerlycarbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerlycongenital disorder of glycosylation, type IIaintellectual disability, Growth retardation, prominent columella, and open mouthmental retardation, Growth retardation, prominent columella, and open mouth
Definition
MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).