MGAT2-CDG (CDG-IIa)
Alternate names[edit | edit source]
CDG 2A; CDG2A; Carbohydrate-deficient glycoprotein syndrome type 2; CDGS2; Congenital disorder of glycosylation, type IIa ; Congenital disorder of glycosylation type IIA; CDG-IIa; ALKURAYA SYNDROME; MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2, FORMERLY; CDG syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; Carbohydrate deficient glycoprotein syndrome type IIa; MGAT2-CDG
Definition[edit | edit source]
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).
NIH genetic and rare disease info[edit source]
MGAT2-CDG (CDG-IIa) is a rare disease.
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