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congenital disorder of glycosylation Icc
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0111839
- Mondo Disease Ontology
- OMIM
