Patient3: Italian

CasePresentingHPOs:

HPOsFreeText: Juvenile onset Pompe

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo:

CasePMIDs:

CasePreviousTesting:

CaseGenotypingMethod: method not descibed

Variant1: NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)

ClinVar: 278911, https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

gnomAD: 0.00003188, https://gnomad.broadinstitute.org/variant/17-78085800-T-C

Variant2: NM_000152.3:c.1333G>C

CAID: CA401366220, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401366220

gnomAD: n/a