has material basis in germline mutation in MGAT2 congenital disorder of glycosylation type II MGAT2-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/10486 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iia carbohydrate-deficient glycoprotein syndrome type 2 MONDO:0008908 SCTID:724142005 congenital disorder of glycosylation, type IIa OMIM:212066 MGAT2-CDG CDG 2A carbohydrate deficient glycoprotein syndrome type IIa 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). CDG2A MEDGEN:443956 Orphanet:79329 UMLS:C2931008 CDG-IIa CDGS2 congenital disorder of glycosylation type 2a carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly N-acetylglucosaminyltransferase 2 deficiency congenital disorder of glycosylation type IIa MESH:C535752 CDG syndrome type IIa DOID:0070253 GARD:0009828 mental retardation, Growth retardation, prominent columella, and open mouth MGAT2-CDG (CDG-IIa) MGAT2-related congenital disorder of glycosylation developmental anomaly of metabolic origin disorder of protein N-glycosylation cardiogenetic disease