Human genes for congenital disorder of glycosylation type IIk
Congenital disorder of glycosylation type IIk [DOID:0070263]
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12.
Synonyms: congenital disorder of glycosylation type IIk, congenital disorder of glycosylation type IIks, DOID:0070263, Carbohydrate deficient glycoprotein syndrome type IIk, CDG2K ...