Case: no patient #ID, female Disease Assertion: UCD/OTCD

Family Info: NA

Case Presenting HPOs: NA

Case HPO FreeText:

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: NA

Supplemental Data: TABLE 1, Notes: NA

Variant: NM_000531.6: c.665del(p.(Gly222ValfsTer8)

ClinVarID: 97289

CAID: CA224738

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)