Patient5: Male, Hispanic, 14yo

CasePresentingHPOs:

HPOsFreeText: IOPD, rhGAA IgG antibody titer = 200, CRIM positive

CaseNotHPOs:

NotHPOsFreeText: no infusion associated reactions

CaseAddInfo: homozygous, 6.8mo at diagnosis, 7.3mo at ERT start

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.4(GAA):c.2297A>C (p.Tyr766Ser)

ClinVar: 420102, https://www.ncbi.nlm.nih.gov/clinvar/variation/420102/

gnomAD: 0.000003998, https://gnomad.broadinstitute.org/variant/17-78090874-A-C