Case#: GT2 male, 7 years old

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: (found in appendix) HP:0000967, HP:0000979, HP:0031364, HP:0000978, HP:0002239

ExpressionEvidence: Flow Cytometry of platelet αIIbβ3: 0%CD41, 0% CD61

FamilyInfo: Positive consanguinity

GenotypingMethod: Sanger DNA sequencing to identify causative mutations in each case

ClinVar: 1691476

CAID: CA400030171

Variant: NM_000212.3:c.1641C>G

GnomAD: Not Found