11*ItalyM/48<1—YesMild6182delTFS36HomozygousN.A.
Case: 11, M, 48, Italian
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:
6182delT (FS), Exon 36, Homozygous