_:vb50946237 "url:https://pubmed.ncbi.nlm.nih.gov/19304569/"^^ . _:vb50946237 . _:vb50946237 . _:vb50946237 "url:https://pubmed.ncbi.nlm.nih.gov/6107814/"^^ . _:vb50946237 . _:vb50946237 . _:vb50946237 . _:vb50946237 "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3."^^ .