Term Name: congenital disorder of glycosylation type IIn
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIn, CDG IIn, CDG syndrome type IIn, CDG2N, CDGIIn, Congenital disorder of glycosylation type 2n, SLC39A8-CDG
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.
Ontology: Human Disease [DOID:0070266]   ( DOID:0070266 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type II