Case#: 5/a, age 6, age 1 (report)

DiseaseAssertion: Pompe Disease

FamilyInfo: Family 5, no further information

CasePresenting HPOs: HP:0001290, HP:0001639 (hypotonia, hypertrophic cardiomyopathy)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: single gene sequencing/analysis, 94.50 NaG/AaGIA, 94.31% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range

Variants:

Variant 1:NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)

ClinVar: 371226

Variant 2:NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)

ClinVar: 371226

ParentalGenotypes: N/A

PreviouslyPublished: N/A