Case#: P 22, Female, 0.2 months old when started ERT (47.0 months old when last reported), German

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0001371

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Flexion contracture )

CaseHPOFreeText: Flexion contractures were a complication during ERT

CaseNotHPOs: N/A

CaseNotHPOFreeText: No tube feeding nor ventilation needed

CasePreviousTesting: CRIM status is unknown

Antibody titer is 1:1.800

Variant 1: NM_000152.3:c.2004C>A

ClinVar: N/A

CAID: CA401370054

gnomAD: N/A

Variant: c.541545delTTAC

ClinVar: N/A

CAID: N/A

gnomAD: N/A

ParentalGenotype: Maternal allele carried the c.2004 C>A Variant

The paternal allele carried the c.541545delTTAC

PreviouslyPublished: N/A