congenital disorder of glycosylation type IIc (DOID:0070255)
Alliance: disease page
Synonyms: CDG2C; CDG IIc; CDGIIc; Rambam-Hasharon syndrome
Alt IDs: OMIM:266265, MESH:C535755, NCI:C4690, ORDO:99843, UMLS_CUI:C0398739
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.