Case: patient MW

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: NA Notes: mutation might cause exon 8 kipping durring splicing.

Variant: NM_000531.6: c.718-2A>G

ClinVarID: 97303

CAID: CA224761

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)