Case#: Subject number 14(L)

DiseaseAssertion: Late Onset Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CK testing: 467 U/L (60-305 U/L is normal), AST: 166 U/L (20-64 U/L is normal), ALT: 73 U/L (12-42 U/L is normal), Hex4: 7.0 mmol/mol Creatinine (≤20 mmol/mol Creatinine is normal)

glucosidase activity: GAA activity #1 was 1.68 micromole/L/h and GAA activity #2 (NBS) 0.79 in dried blood spots (>2.10 micromole/L/h is normal). 2.40 in confirmatory testing (>3.88 is normal).

Variant 1: NM_000152.5(GAA):c.156_157delTC

Variant 1 ClinVarID: N/A

Variant 1 CAid: CA294886619

Variant 2: NM_000152.5(GAA):c.-32-13T>G

Variant 2 ClinVarID: 4027

Variant 2 CAid: CA116606

Zygosity: compound heterozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A