Patient2: Male, 40yo at diagnosis, 63yo at ERT

CasePresentingHPOs:

HPOsFreeText: anti rh-GAA antibodies tire = 1:6400, enzyme (μmol/g/h) = 0.36 (3-20), NIV used before and after ERT

CaseNotHPOs:

NotHPOsFreeText: mobility aid not used

CaseAddInfo: 23yr disease duration, variants in trans

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_000152.3:c.2135T>C

CAID: CA401370560, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.2135T%3EC

gnomAD: n/a

Case4: Male, 0.8 yr onset, 2 yr diagnosis, 2.4 yr report

HPOsFreeText: 1353 CK U/l, 13 GAA activity (nmol/h/mg)^h from cultured fibroblasts

NotHPOsFreeText: No wheelchair used, no respiratory support

Case2: Female, Birth diagnosis, 0.8 yr onset

HPOsFreeText: 258 CK U/l, Deficient GAA activity (nmol/h/mg)^h from cultured fibroblasts

NotHPOsFreeText: No wheelchair used, no respiratory support