Case#: P 15, female. 4.7 months old when started ERT (Died at 8.1 months old)

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0100806

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Sepsis )

CaseHPOFreeText: Sepsis, Asystolia, Port infection and AR IV were complications during ERT

Required tube feeding

No motor activity reached

CaseNotHPOs: N/A

CaseNotHPOFreeText: Did not required ventilation

CasePreviousTesting: CRIM status was negative

Antibody titer was unknown

Variant: NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)

ClinVar: 370357

CAID: CA16041895

gnomAD: N/A

ParentalGenotype: Both the paternal and maternal allele carried the variant c.1687C>T (p.Gln563Ter)

PreviouslyPublished: N/A