Human genes for congenital disorder of glycosylation type IIo
Congenital disorder of glycosylation type IIo [DOID:0070267]
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1.
Synonyms: congenital disorder of glycosylation type IIo, congenital disorder of glycosylation type IIos, DOID:0070267, Carbohydrate deficient glycoprotein syndrome type IIo, CCDC115-CDG ...