1 Matching Annotations
  1. Aug 2024
    1. Case: Patient #85, Male

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNOTHPOs: Late Onset

      CaseNOTHPOFreeText: Milder phenotype

      CasePreviousTesting: N/A

      Variant: NM_000531.6: c.298+1G>T

      ClinVarID: 97160

      CAID: CA224544

      gnomAD: