Case: Patient #16, Male

DiseaseAssertion: UCD/OTCD

FamilyInfo: N/A

CasePresentingHPOs: Neonatal onset (HP:0003623), Hyperammonemia (HP:0001987)

CaseHPOFreeText:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: N/A

Variant: NM_000531.6: c.77+2dupT

ClinVarID: 567293

CAID: CA891844248

gnomAD: