Patient1: Female, Caucasian, 10yo

CasePresentingHPOs:

HPOsFreeText: IOPD, rhGAA IgG antibody titer = 400, CRIM positive

CaseNotHPOs:

NotHPOsFreeText: no infusion associated reactions

CaseAddInfo: homozygous, 6.5mo at diagnosis, 7.0mo at ERT start

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.4(GAA):c.655G>A (p.Gly219Arg)

ClinVar: 189065, https://www.ncbi.nlm.nih.gov/clinvar/variation/189065/

gnomAD: 0.00001809, https://gnomad.broadinstitute.org/variant/17-78079656-G-A