Patient2: Male, African American, 11yo

CasePresentingHPOs:

HPOsFreeText: IOPD, rhGAA IgG antibody titer = 800, CRIM positive

CaseNotHPOs:

NotHPOsFreeText: no infusion associated reactions

CaseAddInfo: 15mo at diagnosis, 16mo at ERT start

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.-32-13T>G

Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

Variant2: NM_000152.4(GAA):c.1447G>A (p.Gly483Arg)

ClinVar: 285157, https://www.ncbi.nlm.nih.gov/clinvar/variation/285157/