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 )