Case: 2 year old male at the time of genetic diagnosis, initially presenting with abnormal gait

DiseaseAssertion: Clinical exome sequencing showed the recurrent VWA1 founder mutation

FamilyInfo: no family history of neurological or musculoskeletal conditions

CasePresentingHPOs: HP:0001288 (abnormal gait), HP:0002359 (frequent falls), HP:0003701 (proximal muscle weakness)

CaseHPOFreeText: Gower's sign

Gene: VWA1

Variant: c.62_71dup (p.Gly25ArgfsTer74) (maternally inherited)

HGVS: NM_022834.5:c.62_71dup

ClinVar: 830327

gnomad: does not exist in database

MultipleGeneVariants: novel paternally inherited missense variant, c.212T>C (p.Leu71Pro)

Case: 8 years old female, age of genetic diagnosis; 6-months-old, when first presented with bilateral in-toeing

DiseaseAssertion: related to neurological symptoms, difficult to say which type of VWD she has

FamilyInfo: great uncle with "clubfoot"

CasePresentingHPOs: HP:0007340, HP:0001347, HP:0001771,

CaseHPOFreeText: Talipes equinovarus bilaterally

Gene: VWA1

Variant: c.62_71dup (p.Gly25ArgfsTer74)

HGVS: NM_022834.5:c.62_71dup

ClinVar: 830327

gnomAD: allele frequency: 0.0003330, https://gnomad.broadinstitute.org/variant/1-1371178-T-TGGCGCGGAGC?dataset=gnomad_r2_1