_:vb50941175 . _:vb50941175 . "congenital disorder of glycosylation Ij"^^ . _:vb50941175 . "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23."^^ . "Congenital disorder of glycosylation 1j"@en . . _:vb50941176 . "DOID:0080562"^^ . _:vb50941176 . _:vb50941176 . . "disease_ontology"^^ . . _:vb50941176 . "ORDO:86309"^^ . _:vb50941175 . _:vb50941175 . _:vb50941176 . "GARD:9837"^^ . "OMIM:608093"^^ . .