1 Matching Annotations
  1. Aug 2024
    1. Case: Patient #7, Female

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: N/A

      Variant: NM_000531.6: c.29_32del (p.Asn10fs)

      ClinVarID: 97157

      CAID: CA224540

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)