Term Name: | congenital disorder of glycosylation Icc |
---|---|
Synonyms: | congenital disorder of glycosylation type Icc |
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. |
Ontology: | Human Disease [DOID:0111839] ( DOID:0111839 ) |