Case#: Patient 1, gender N/A, Age of onset was 7-8 months (died at 3 years of age), Southeast Asian

DiseaseAssertion: Pompe Disease

FamilyInfo:

CasePresentingHPOs: HP:0001252, HP:0001270, HP:0001638, HP:0005165 (Muscular Hypotonia, Motor delay, Cardiomyopathy, Shortened PR interval)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: GAA activity in leukocytes was 0% of the normal control value.

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

Variant1: NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)

ClinVar: 637958

CAID: CA401363871

gnomAD: N/A

Variant2: NM_000152.5:c.1003G>A (p.Gly335Arg)

ClinVar: 972790

CAID: CA501005

gnomAD: Highest population MAF = 0.00003266 (South Asian).

ParentalGenotype: Patient inherited variant 1 (NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) from father.

Variant 2 (c.1003G>A (p.Gly335Arg)) was inherited from mother PreviouslyPublished:N/A