Term Name: congenital disorder of glycosylation type IIa
Synonyms: Alkuraya syndrome, carbohydrate-deficient glycoprotein syndrome, type II, CDG IIa, CDG2A, CDGIIa, CDGS2, congenital disorder of glycosylation, type IIa, mental retardation, growth retardation, prominent columella, and open mouth
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.
Ontology: Human Disease [DOID:0070253]   ( DOID:0070253 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type II