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Metadata
ID	DOID:0111839
Name	congenital disorder of glycosylation 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
Xrefs	OMIM:301031
Synonyms	congenital disorder of glycosylation type Icc [EXACT]
Parent Relationships	is_a X-linked recessive disease is_a congenital disorder of glycosylation type I