Patient3: Male, Caucasian, 11yo

CasePresentingHPOs:

HPOsFreeText: IOPD, negative rhGAA IgG antibody titer, CRIM positive

CaseNotHPOs:

NotHPOsFreeText: no infusion associated reactions

CaseAddInfo: diagnosed at birth, 15days old at ERT start

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.525delT (p.Glu176Argfs)

ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

gnomAD: 0.00009959, https://gnomad.broadinstitute.org/variant/17-78078909-CT-C

Variant2: NM_000152.5(GAA):c.1642G>T (p.Val548Phe)

ClinVar: 5973381, https://www.ncbi.nlm.nih.gov/clinvar/variation/597381/

gnomAD: n/a

Variant3: NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)

ClinVar: 597382, https://www.ncbi.nlm.nih.gov/clinvar/variation/597382/

gnomAD: n/a