Case: Patient #3, male, Chinese DiseaseAssertion: UCD/OTCD FamilyInfo: Family history of the disease CasePresentingHPOs: neonatal(HP:0003623), hyperammonemia (HP:0001987), oroticaciduria (HP:0003218) CaseHPOFreeText: Neurological damage, neonatal onset, oritic aciduria, hyperammonemia, CaseNOTHPOs: N/A CaseNOTHPOFreeText: N/A CasePreviousTesting: not described GenotypingMethod: not described SupplementalData: Table 3 Variant: NM_000531.6: c.579G>A(p.W193X) ClinVarID:N/A CAID: CA412725369 gnomAD: GeneName: OTC (ornithine transcarbamylase)