Patient5: 12yo

CasePresentingHPOs: HP:0001638

HPOsFreeText: rhGAA dosage = 20 EOW, ventilator dependent

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: 6mo at ERT start

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

Variant2: NM_000152.3:c.2023_2025del

CAID: CA274244, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA274244

gnomAD: 2.105e-05, http://exac.broadinstitute.org/variant/17-78086806-CACA-C