Case#: Patient 6, Gender N/A, Onset at 5-6 months. Death around 2 years old, Southeast Asian

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: P:0001639. HP:0005165, HP:0001270, HP:0011968

(Dyspnea, Shortened PR interval, Motor delay, Feeding difficulties,

CaseHPOFreeText: FTT, BVH, Severe MR)

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: GAA activity in leukocytes was 0.43% 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.781G>A (p.Ala261Thr)

ClinVar: 456438

CAID: CA8815016

gnomAD: Highest population MAF = 0.00009799 (South Asian)

ParentalGenotype: Father and Mother were carriers of the variant c.781G>A (p.Ala261Thr)

PreviouslyPublished: N/A