Case#: GT1-III2 male, 11 years old

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: (found in appendix) HP:0001892, HP:0000421, HP:0000225, HP:0000967, HP:0000979, HP:0031364, HP:0006298,

ExpressionEvidence: Not done

FamilyInfo: Positive consanguinity, parents heterozygous carriers, 2 affected siblings, one deceased. Pedigree figure 1.

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

ClinVar: 1691482

CAID: CA400021881

Variant: NM_000212.3:c.422A>G

GnomAD: Not Found