Case#: P 3, Male, 4.9 months when started ERT (122.1 months old at publication date), Ethnicity unknown

DiseaseAssertion: Pompe disease

FamilyInfo: Table 1 includes parental genotype

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0002028

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Chronic diarrhea )

CaseHPOFreeText: Chronic diarrhea was a complication during ERT

Patient best and last/current status was being able to sit

CaseNotHPOs: N/A

CaseNotHPOFreeText: Patient did not required tube feeding

Patient did not required ventilation

CasePreviousTesting: CRIM status is positive in patient

Antibody titer is 1:200

Variant 1: c.IVS17 + 102_IVS18 + 3

ClinVar: N/A

CAID: 657307

gnomAD: N/A

Variant 2: c.1465G>T (p.Asp489Tyr)

ClinVar: N/A

CAID: CA401366871

gnomAD: N/A

ParentalGenotype: The maternal allele of the patient carried the c.IVS17 + 102_IVS18 + 31 Variant

The paternal allele of the patient carried the c.1465G>T (p.Glu489Ter) Variant

PreviouslyPublished: N/A