20 10 M 45 c.7603C.T p.R2535* Hmz ,1 ,1 8 + -
Case: 20, M, 10 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 8
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7603C>T (p.Arg2535*), Exon 45, Homozygous