congenital disorder of glycosylation type IIp (DOID:0070268)
Alliance: disease page
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIp; CDG2P; CDG IIp; CDG syndrome type IIp; CDGIIdp; Congenital disorder of glycosylation type 2p; TMEM199-CDG
Alt IDs: OMIM:616829, ORDO:466703
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2.