Case27: Male, 5 yr onset, 5 yr diagnosis, 10.1 yr report

HPOsFreeText: FVC z-score sitting -1.38 (84% pred), FVC z-score supine -2.55 (71% pred), 774 CK U/l, 1.7 GAA activity (nmol/h/mg)^h from cultured fibroblasts

NotHPOsFreeText: No wheelchair used, No respiratory support

Case26: Female, 4 yr onset, 4 yr diagnosis, 8.1 yr report

HPOsFreeText: FVC z-score sitting 0.01 (100% pred), FVC z-score supine -0.63 (92% pred), 98% MRC Scale, 572 CK U/l, 2.3 GAA activity (nmol/h/mg)^h from cultured fibroblasts

NotHPOsFreeText: No wheelchair used, No respiratory support

Case25: Male, 67 years report

HPOsFreeText: 4 years of ERT completed, 6 Minute Walking Test at 172 meters, Forced Vital Capacity at 49%

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.-32-3C>G

CAID: CA658795220 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.-32-3C%3EG

gnomAD: Not in gnomAD

CaseAddInfo: Late Onset Pompe Disease