congenital disorder of glycosylation type IIj (DOID:0070262)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIj; CDG2J; CDG IIj; CDG syndrome type IIj; CDGIIdj; COG4-CDG; Congenital disorder of glycosylation type 2j
Alt IDs: OMIM:613489, ORDO:263501
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.