1 Matching Annotations
  1. Aug 2024
    1. Case: Patient #50, 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.174G>A (p.Trp58*)

      ClinVarID: 97127

      CAID: CA224490

      gnomAD: