Patient4: Male, 50yo

CasePresentingHPOs: HP:0003077, HP:0005978

HPOsFreeText: LOPD

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: 5yr follow-up MRI, 18yr disease duration, ERT lasted 130mo

CasePMIDs: PMID: 25614309

CasePreviousTesting: same as group

CaseGenotypingMethod: same as grou

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

Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

Variant2: NM_000152.3:c.1495T>A

CAID: CA198789, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA198789

gnomAD: n/a