Case#: Patient ID 7, Male 3 years old. North Indian

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0003540, HP:0000421, HP:0031364

Impaired platelet aggregation, Epistaxis, Ecchymosis

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

FamilyInfo: Brother affected confirmed GT.

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

ClinVar: 1691487

CAID: CA400029054

Variant: NM_000212.3:c.1388G>C

GnomAD: NA

ExpressionEvidence:Flow Cytometry for platelet expression of GPIIb/IIIa in CD41a .5% and CD61 1.7%.