|OBO ID: DOID:0080562|
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|Term Name:||congenital disorder of glycosylation Ij||Search Ontology:|
|Definition:||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. https://www.ncbi.nlm.nih.gov/pubmed/12872255|
|Ontology:||Human Disease (DOID:0080562)|
|is a type of:||