Case: Patient 24, M, Hungarian

DiseaseAssertion: VWD type 3

FamilyInfo: compatible with recessive inheritance

ParentalGenotype(s): n/a

CasePresentingHPOs: n/a

CaseHPOFreeRext: Bleeding score: 14, VWF:Ag (IU dL−1): 5, VWF:CB (IU dL−1): 1.5, FVIII:C (IU dL−1): 7, VWF:RCo below detection limit (<10 IU dL−1), low‐molecular‐weight multimer on multimer gels (distribution of the very small amount of multimers seems almost normal)

CaseNOTHPOs: n/a

CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy, gene dosage analysis performed in exon 3 gave normal results

CasePreviousTesting: n/a

Gene: VWF

Variant:

c.1786C>A (p.His596Asn), Exon 15

Intron 40 VNTR: 15/19

SNPs, sequenced throughout the VWF gene (Table S1) were heterozygous and homozygous alternately

Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR