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 ) |