Human genes for congenital disorder of glycosylation type IIp
Congenital disorder of glycosylation type IIp [DOID:0070268]
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2.
Synonyms: congenital disorder of glycosylation type IIp, congenital disorder of glycosylation type IIps, DOID:0070268, Carbohydrate deficient glycoprotein syndrome type IIp, CDG2P ...