Case#: Patient 8, Gender N/A, Onset at 1-2 months. Death at 13 months. Southeast Asian

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0002240, HP:0001252, HP:0002789, HP:0001698 (Hepatomegaly, Muscular hypotonia, Tachypnea, Pericardial effusion)

CaseHPOFreeText: Hepatomegaly is mild, Pericardial effusion is mild, BHV, SDD

CaseNotHPOs: N/A

CaseNotHPOFreeText: Normal PR Interval

CasePreviousTesting: GAA activity in leukocytes was 1.46% of normal control value.

PCR of all exons was performed and subsequently subjected to capillary Sanger sequencing in both directions

Variant: NM_000152.5(GAA):c.877G>A (p.Gly293Arg)

ClinVar: 4036

CAID: CA116622

gnomAD: Highest population MAF = 0.00005704 (Latino)

ParentalGenotype: Both parents were carriers of the variant c.877G>A (p.Gly293Arg)

PreviouslyPublished: N/A