Term Name: | congenital disorder of glycosylation type IIc |
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Synonyms: | CDG IIc, CDG2C, CDGIIc, Rambam-Hasharon syndrome |
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. |
Ontology: | Human Disease [DOID:0070255] ( DOID:0070255 ) |