has material basis in germline mutation in MGAT2 congenital disorder of glycosylation type II MGAT2-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iia carbohydrate-deficient glycoprotein syndrome type 2 CDG-IIa CDGS2 congenital disorder of glycosylation type 2a carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly MONDO:0008908 SCTID:724142005 N-acetylglucosaminyltransferase 2 deficiency congenital disorder of glycosylation, type IIa OMIM:212066 MGAT2-CDG CDG 2A congenital disorder of glycosylation type IIa carbohydrate deficient glycoprotein syndrome type IIa MESH:C535752 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). CDG syndrome type IIa CDG2A DOID:0070253 MEDGEN:443956 GARD:0009828 Orphanet:79329 mental retardation, Growth retardation, prominent columella, and open mouth UMLS:C2931008 MGAT2-CDG (CDG-IIa) developmental anomaly of metabolic origin disorder of protein N-glycosylation cardiogenetic disease