Case#: Patient 1, female, 2.5 months of age at diagnosis, Hispanic

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638, HP:0032988, HP:0001252, HP:0001270, HP:0002015, HP:0012378

(Cardiomyopathy, Persistent head lag, Muscular hypotonia, Motor delay, Dysphagia, Fatigue)

CaseHPOFreeText: NG tube feeding was left after Enzyme Replacement Therapy (ERT).

Cardiac status at base line was 160 LVMI g/m^2, after ERT IT WAS 81 LVMI g/m^2

Patient needed oxygen at baseline, no respiratory support at ERT.

one episode of Infusion Associated Reactions (IARs) to ERT.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting:

Variant 1: NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)

ClinVar: 189009

CAID: CA274250

gnomAD: Highest population MAF= 0.00004888 (European non-Finnish)

ParentalGenotype:N/A

PreviouslyPublished:N/A

Case#: P 18, Male, 1.4 months old when started ERT (Died at 36.4 months old)

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP: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 motor status was walking

CaseNotHPOs: N/A

CaseNotHPOFreeText: Did not required ventilation nor tube feeding

CasePreviousTesting: CRIM status was positive

Antibody titer was unknown

Variant: NM_000152.5(GAA):c.896T>C (p.Leu299Pro)

ClinVar: 180144

CAID: CA273686

gnomAD: N/A

ParentalGenotype: Both the paternal and maternal allele carried the variant NM_000152.5(GAA):c.896T>C (p.Leu299Pro)

PreviouslyPublished: N/A