. "congenital disorder of glycosylation Icc"^^ . _:vb50945575 . _:vb50945574 . . "congenital disorder of glycosylation type Icc"^^ . _:vb50945574 . _:vb50945575 . "OMIM:301031"^^ . . _:vb50945574 . _:vb50945575 . _:vb50945574 . "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 MAGT1 on chromosome Xq21.1."^^ . . _:vb50945575 . "DOID:0111839"^^ . "disease_ontology"^^ . _:vb50945575 . _:vb50945574 .