congenital disorder of glycosylation Icc

Term ID

DOID:0111839

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. https://www.ncbi.nlm.nih.gov/pubmed/31036665

References

• MIM:301031

Ontology

Human Disease   ( DOID:0111839 )