Case#: Patient ID 6, Male 3 years old. North Indian

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0003540, HP:0000967, HP:0002239

Impaired platelet aggregation, Petechiae, Gastrointestinal hemorrhage

PlateletAgreggation: LTA with ADP, Epi, Coll, AA, and Ristocetin: Impaired with all agonists

GenotypingMethod: Next generation sequencing. Sanger sequencing used to confirm pathogenic variants

ClinVar:1691486

CAID: CA399794330

Variant: NM_000419.5:c.2578C>T

GnomAD: NA

ExpressionEvidence:Flow Cytometry for platelet expression of GPIIb/IIIa in CD41a 0% and CD61 0%.