Case1: Female, 5 years old, Swiss (from Morocco)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Affected brother

ParentalGenotype: Mother and father are heterozygous for the variant of interest

CasePresentingHPOs: HP:0001250, HP:0001270, HP:0000967, HP:0001892

(Seizures, retarded motor development, petechia, hemorrhagic diathesis)

CaseHPOFreeText: Subepndymal hematomas, cortical tubera, hydrocephalus internus

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry protein expression results can be seen in Figure 1

PlateletAggregation: Platelets failed to aggregate with ADP, collagen, or arachidonic acid; however, ristocetin induced platelet agglutination was normal

CasePreviousTesting: Amplified DNA fragments containing exon 11 of the GPIIIa gene were purified by PCR preps DNA purification resin and wizard.

Gene: ITGB3

Variant: NM_000212.2:c.1702T>C (p.Cys568Arg)

LegacyVariant: (p.Cys542Arg)

ClinVar: N/A

CAiD: CA400032350

gnomAD: N/A