Case#: P 8, Female, 3.7 months old when started ERT (Died at 36.8 months), German

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 and GER were complications during ERT

Patient required ventilation and tube feeding

The best and last motor status was sitting.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CRIM status is positive in patient

Antibody titer is 1:4,000

Variant: NM_000152.5(GAA):c.266G>A (p.Arg89His)

ClinVar: 283219

CAID: CA8814833

gnomAD: Highest population MAF= 0.001168 in Ashkenzai Jewish

Variant: c.104T>C (p.Phe35Ser)

ClinVar: N/A

CAID: CA401360259

gnomAD: N/A

ParentalGenotype: The maternal allele carried the c.266G>A variant

The paternal allele carried the c.104T>C variant

PreviouslyPublished: N/A