Case#: Patient 1, female, symptoms began at birth, began ERT at 2.4mo

DiseaseAssertion: Pompe Disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0002789, HP:0001639, HP:0010628, HP:0000010 (tachypnea, hypertrophic cardiomyopathy, facial nerve palsy, persistent urinary tract infections)

CaseHPOFreeText: diagnosed IOPD, frequent airway infections, motor function significant decline

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: <1% normal GAA expression in fibroblast; after ERT treatment had 100% enzyme activity in cell lysates; unclear how patient was diagnosed

Variant 1: NM_000152.5:c.2481+102_2646+31del538

Variant 1 ClinVarID: 657307

Variant 1 CAid: CA65879529

Variant 2: NM_000152.5:c.2481+102_2646+31del538

Variant 2 ClinVarID: 657307

Variant 2 CAid: CA658795291

ParentalGenotype: Not provided