congenital disorder of glycosylation Icc

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

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.

Signs and symptoms

• Type I transferrin isoform profile
• Global developmental delay
• Intellectual disability
• Hepatomegaly

Also known as: congenital disorder of glycosylation type Icc