Case#: P 17, Female, 5.5 mo nths old when started ERT (62.8 months old when last reported), German

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: P:0001639 , HP:0001252 , HP:0003701, HP:0006532

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

CaseHPOFreeText: Recurrent pneumonia was a complication during ERT

Best and last motor status was walking

CaseNotHPOs: N/A

CaseNotHPOFreeText: Did not required tube feeding nor ventilation

CasePreviousTesting: CRIM status was unknown

Antibody titer 1:800

Variant: NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)

ClinVar: 558604

CAID: CA8815561

gnomAD: MAF=0.00005554 in East Asian

ParentalGenotype: Both the paternal and maternal allele carried the NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) Variant

PreviouslyPublished: N/A

Case#: P 14, Male, 1.5 months old when started ERT (Died at 41.8 months old), German

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

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

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

CaseHPOFreeText: Pneumonia and deterioration were complications during ERT

Required ventilation

CaseNotHPOs: N/A

CaseNotHPOFreeText: Did not required tube feeding

CasePreviousTesting: CRIM Status and Antibody titer are unknown

Variant: NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)

ClinVar:<br /> 558604

CAID: CA8815561

gnomAD: MAF=0.00005554 in East Asian

ParentalGenotype: Both the paternal and maternal allele carry the variant c.1978C>T (p.Arg660Cys)

PreviouslyPublished: N/A