congenital disorder of glycosylation Icc (DOID:0111839)
Alliance: disease page
Synonyms: congenital disorder of glycosylation type Icc
Alt IDs: OMIM:301031
Definition: A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1.