Term Name: | congenital disorder of glycosylation type IIn |
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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 ) |