Case4: Female, 20 years onset, 48 years diagnosis, 57 years report, France

CasePresentingHPOs: HP:0002540, HP:0002878, HP:0004887 (Inability to walk, Respiratory failure, Respiratory failure requiring assisted ventilation)

HPOsFreeText: Lost ambulation at 42 years, Started invasive ventilation at 32 years, Started ERT given every other week at a dose of 20 mg/kg at 50 years for 87 months, Peak Anti-rhGAA antibodies at 1:25,600, FVC at 0.42/13 (L / % expected), MIP at 15 (cm H2O), MEP at 17 (cm H2O), Time off ventilation increased from 60 to 120 min, Total Motor Function Measure from 45 to 49, 6MWT from 10 to 30 meters

CaseNotHPOs: HP:0030148 (Heart murmur)

NotHPOsFreeText: No adverse reaction to ERT was recorded

CaseAddInfo: Late Onset Pompe Disease

Case7: Female, 58 years report

HPOsFreeText: 9 years of ERT completed, Forced Vital Capacity at 14%

GenotypingMethod: GAA Gene Sequencing

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

ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

Variant2: NM_000152.4:c.2041-1G>A

CAID: CA8815596 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2041-1G%3EA

gnomAD: European (Non-Finnish) 1.012e-5, Overall 4.541e-6 http://gnomad.broadinstitute.org/variant/17-78087016-G-A

CaseAddInfo: Late Onset Pompe Disease