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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Type-3 von Willebrand disease in India—Clinical spectrum and molecular profile
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    1. ClingenBaseline 21 Oct 2026

      Case#: Elayaperumal_2018_V-312 , M, 2.5 y.o. (onset), origin in India

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes, Family history: No

      ParentalGenotype: not reported

      CasePresentingHPOs:

      CaseHPOFreeText: Bleeding score: 7, VWF:Ag 0, FVIII:C 3.6%

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: not reported

      GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

      Gene: VWF

      Variant: homozygous c.3560delT

      HGVS: NM_000552.3:c.3560delT (p.Leu1187Cysfs*28)

      ClinVarID: not present

      CAID: CA2580612141

      gnomAD: not present

      MultipleGeneVariants:

      InheritancePattern:AutosomalRecessive Zygosity:Homozygous Mutation:Frameshift DiseaseEntity:VWD3 CAID:CA2580612141 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/29984440/