1 Matching Annotations
  1. Last 7 days
    1. 26IranM/24<1—YesSevere7683delTFS45HomozygousEco57 I (+)

      Case: 26, M, 24, Iranian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

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

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      7683delT (FS), Exon 45, Homozygous