Case#: P 16, Female, 3.4 months old when started ERT (Died at 27.0 months), German

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: P:0001639 , HP:0001252 , HP:0003701, HP:0002090

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Pneumonia)

CaseHPOFreeText: Pneumonia, deterioration and AR III were complications during ERT)

Ventilation and tube feeding were necessary

Best motor status was sitting

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CRIM status was positive

Antibody titer 1:5,600

Variant: NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)

ClinVar:<br /> 189025

CAID: CA274281

gnomAD: MAF=0.00001552 in European non-Finnish

Variant: c.IVS14 + 20A>G (old nomenclature)

ClinVar: N/A

CAID: N/A

gnomAD: N/A

ParentalGenotype: The maternal allele carried the c.IVS14 + 20A>G variant

The paternal allele carried the c.1548G>A Variant

PreviouslyPublished: N/A

Case#: Patient 8, male, diagnosed 2014 (not given age of diagnosis), age 19 during study period

DiseaseAssertion: Pompe Disease

FamilyInfo: None given

CasePresentingHPOs: None given

CaseHPOFreeText: None given

CaseNotHPOs: None given

CaseNotHPOFreeText: None given

CasePreviousTesting: None given

Variant 1: NM_000152.5:c.-32-13T>G (unclear variant nomenclature)

Variant 1 ClinVarID: 4027

Variant 1 CAid: CA116606

Variant 2: NM_000152.5:c.1548G>A

Variant 2 ClinVarID: 189025

Variant 2 CAid: CA274281

ParentalGenotype: Not provided