Case#: Patient 2, Male, 2.5 months old at diagnosis, African Canadian

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638, HP:0032988

(Cardiomyopathy, Persistent head lag)

CaseHPOFreeText: antigravity movements arms>legs

Previous to ERT NG tube feeding was necessary due to aspiration, after ERT patient uses a GJ tube.

Patient requires oxygen and BiPAP at night.

CaseNotHPOs: N/A

CaseNotHPOFreeText: Patient can bear its weight independently.

CasePreviousTesting: No GAA measurement

Variant: NM_000152.3:c.546+2T>C

ClinVar: N/A Double check

CAID: CA401361919

gnomAD: N/A

ParentalGenotype:N/A

PreviouslyPublished:N/A