1 Matching Annotations
  1. Oct 2026
    1. 15IranF/18<1—YesMild788del24263del87HomozygousRsaI (+)

      Case: 15, F, 18, Iranian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Mild

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      788del24 (263del8), Exon 7, Homozygous