congenital disorder of glycosylation Ij (DOID:0080562)
Alliance: disease page
Synonyms: Congenital disorder of glycosylation 1j
Alt IDs: OMIM:608093, ORDO:86309
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.