Human genes for congenital disorder of glycosylation type IIj
Congenital disorder of glycosylation type IIj [DOID:0070262]
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1.
Synonyms: congenital disorder of glycosylation type IIj, congenital disorder of glycosylation type IIjs, DOID:0070262, Carbohydrate deficient glycoprotein syndrome type IIj, CDG2J ...