Patient7: 6yo

CasePresentingHPOs: HP:0001638

HPOsFreeText: rhGAA dosage = 20 QW, independent walker

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: 12days old 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.1062C>G

CAID: CA401364789, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401364789

gnomAD: n/a

Variant3: NM_000152.4(GAA):c.1286A>G (p.Gln429Arg)

ClinVar: 284497, https://www.ncbi.nlm.nih.gov/clinvar/variation/284497/

gnomAD: 0.0007528, http://gnomad.broadinstitute.org/variant/17-78082587-A-G