Case: Patient #8, Female, Spanish

DiseaseAssertion: UCD/OTCD

FamilyInfo: Family history of disease

CasePresentingHPOs: Hyperammonemia (HP:0001987), Hyperglutaminemia (HP:0003217), Low plasma citrulline (HP:0003572), Oroticaciduria (HP:0003218), Childhood onset (HP:0011463)

CaseHPOFreeText:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: Patients referred for mutational study because of enzymatically proven and/or laboratory proven OTC deficiency; genomic DNA extracted using commercial kit; amplified through PCR; SSCP analysis; sequenced using ABI Prism 3100 automated sequencer

SupplementalData: Table 1

Variant: NM_000531.6: c.391_397dup (p.Ser133Ilefs*3)

ClinVarID: 597358

CAID: CA913190354

gnomAD: