Case#: Patient ID 1, Male 8 months. North Indian

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0031364, HP:0003540

Ecchymosis, Impaired platelet aggregation

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

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

Allele 1:

ClinVar: 627093

CAID: CA626224613

Variant: NM_000419.5:c.559del

GnomAD: South Asian at rate of 0.00003507 (1/28512)

ExpressionEvidence: No flow cytometry