Case#: P 7, Female, 2.3 months old when started ERT (90.6 months old at publication date), ethnicity unknown

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0031846, HP:0030242

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Femur fracture, Portal vein thrombosis)

CaseHPOFreeText: Femur fracture and Port thrombosis were complications during ERT

Best motor status was walking, last motor status was sitting

Patient required ventilation

CaseNotHPOs: N/A

CaseNotHPOFreeText: Did not required tube feeding

CasePreviousTesting: CRIM status is positive

Antibody titer is 1:800

Variant: NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)

ClinVar: 188728

CAID: CA273892

gnomAD: Highest population MAF= 0.00006599 in Africans

ParentalGenotype: Both the paternal and maternal allele carried the variant c.1933G>A (p.Asp645Asn)

PreviouslyPublished: N/A