32 18 M 22 c.2908delCp.L970del Hmz 3.2 ,1 12 - -
Case: 32, M, 18 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): 3.2, VWF:Ag (U/dl): <1, Bleeding Score: 12
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2908delC (p.Leu970del), Exon 22, Homozygous
33 4.5 M 22 c.2908delCp.L970del Hmz 2.3 ,1 10 - -
Case: 33, M, 4.5 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): 2.3, VWF:Ag (U/dl): <1, Bleeding Score: 10
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2908delC (p.Leu970del), Exon 22, Homozygous