congenital disorder of glycosylation type IIn (DOID:0070266)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIn; CDG2N; CDG IIn; CDG syndrome type IIn; CDGIIdn; Congenital disorder of glycosylation type 2n; SLC39A8-CDG
Alt IDs: OMIM:616721, ORDO:468699
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.