Case: patient #198, male

Disease Assertion: UCD/OTCD

Family Info: N/A

Case Presenting HPOs: Neonatal onset (HP:0003623)

Case HPO FreeText:

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: No specific functional tests indicated

Supplemental Data: In supplemental data files

Variant: NM_000531.6:c.538C>T(p.Gln180*)

ClinVarID: N/A

CAID: CA412724187

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)