19 1.3 F 45 c.7725_7729delCTGTGp.R2575_E2577del Htz 3.6 1 4 + -
Case: 19, F, 1.3 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo:family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 3.6, VWF:Ag (U/dl): 1, Bleeding Score: 4
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7725_7729delCTGTG (p.Arg2575_Glu2577del), Exon 45, Heterozygous