DISEASES

Disease-gene associations mined from literature

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 ...