congenital disorder of glycosylation type IIk (DOID:0070263)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIk; CDG2K; CDG IIk; CDG syndrome type IIk; CDGIIdk; Congenital disorder of glycosylation type 2k; TMEM165-CDG
Alt IDs: OMIM:614727, ORDO:314667
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.