1 Matching Annotations
  1. Jul 2024
    1. Case: no patient #ID, male 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.663+1G>A

      ClinVarID: 97283

      CAID: CA224730

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)