10*ItalyF/30<1—YesSevere4626C→GY1542X28HomozygousRsaI (−)
Case: 10, F, 30, Italian
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:
4626C→G (Tyr1542X), Exon 28, Homozygous