1 Matching Annotations
  1. Aug 2024
    1. Case: Patient #16, Male

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs: Neonatal onset (HP:0003623), Hyperammonemia (HP:0001987)

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: N/A

      Variant: NM_000531.6: c.77+2dupT

      ClinVarID: 567293

      CAID: CA891844248

      gnomAD: