Case: no patient ID#, 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: GDNA was extracted from blood or liver tissues using salt and ethanol precipitation. multiplex amplification for exons 1, 5 and 9 to screen male patients with large deletions. Band intensities were measured using a molecular dynamics phosphoimager.

Supplemental Data: TABLE 2

Variant: NM_000531.6: c.541-2A>G

ClinVarID: 97243

CAID: CA224675

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

Case: no patient ID#, male

Disease Assertion: UCD/OTCD

Family Info:

Case Presenting HPOs: Neonatal onset (HP:0003623)

Case HPO FreeText:

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: GDNA was extracted from blood or liver tissues using salt and ethanol precipitation. multiplex amplification for exons 1, 5 and 9 to screen male patients with large deletions. Band intensities were measured using a molecular dynamics phosphoimager.

Supplemental Data: TABLE 2,

Variant: NM_000531.6: c.437C>G(p.Ser146*)

ClinVarID: 97201

CAID: CA224606

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)