Patient8: Female, 41yo at diagnosis, 48yo at ERT

CasePresentingHPOs:

HPOsFreeText: anti rh-GAA antibodies titre = 1:1600, enzyme (μmol/g/h) = 0.23 (2-10), mobility aid required before and after ERT

CaseNotHPOs:

NotHPOsFreeText: NIV not required

CaseAddInfo: 7yr disease duration, variants in trans

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.3:c.482_483del

CAID: CA8814879, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8814879

gnomAD: 1.729e-05, http://exac.broadinstitute.org/variant/17-78078864-TCC-T

Variant2: NM_000152.4(GAA):c.692+5G>T

ClinVar: 562532, https://www.ncbi.nlm.nih.gov/clinvar/variation/526532/

gnomAD: 8.596e-06, http://exac.broadinstitute.org/variant/17-78079698-G-T