69 1.5 F 34 c.5793G.Cp.Q1931H Hmz ,1 ,1 2 - -
Case: 69, F, 1.5 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 2
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5793G>C (p.Gln1931His), Exon 34
Homozygous