MGAT2-congenital disorder of glycosylation
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).
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
MONDO:0100547
cardiogenetic disease
is_a
CDG 2A
related
CDG syndrome type IIa
exact
CDG-IIa
exact
CDG2A
exact
CDGS2
related
MGAT2-CDG
exact
MGAT2-CDG (CDG-IIa)
related
N-acetylglucosaminyltransferase 2 deficiency
exact
carbohydrate deficient glycoprotein syndrome type IIa
exact
carbohydrate-deficient glycoprotein syndrome type 2
related
carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly
related
congenital disorder of glycosylation type 2a
exact
congenital disorder of glycosylation type IIa
exact
congenital disorder of glycosylation, type IIa
related
mental retardation, Growth retardation, prominent columella, and open mouth
related