DISEASES

Disease-gene associations mined from literature

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,  DOID:0070263,  congenital disorder of glycosylation type IIks,  CDG IIk,  CDG syndrome type IIk ...