Case#: P 18, Male, 1.4 months old when started ERT (Died at 36.4 months old)

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0006532

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Recurrent Pneumonia)

CaseHPOFreeText: Recurrent pneumonia was a complication during ERT

Best motor status was walking

CaseNotHPOs: N/A

CaseNotHPOFreeText: Did not required ventilation nor tube feeding

CasePreviousTesting: CRIM status was positive

Antibody titer was unknown

Variant: NM_000152.5(GAA):c.896T>C (p.Leu299Pro)

ClinVar: 180144

CAID: CA273686

gnomAD: N/A

ParentalGenotype: Both the paternal and maternal allele carried the variant NM_000152.5(GAA):c.896T>C (p.Leu299Pro)

PreviouslyPublished: N/A