Human genes for congenital disorder of glycosylation type IIa
Congenital disorder of glycosylation type IIa [DOID:0070253]
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3.
Synonyms: congenital disorder of glycosylation type IIa, congenital disorder of glycosylation type IIas, DOID:0070253, Alkuraya syndrome, carbohydrate-deficient glycoprotein syndrome, type II ...