Case9: Female, 20 years report, Italy

CasePresentingHPOs: HP:0003551, HP:0002098 (Difficulty climbing stairs, Respiratory distress)

HPOsFreeText: Height is 1.57 m, Weight is 41 kg, BMI is 16.6 kg/cm2, 8 years on ERT, Forced Vital Capacity at 22%, Nocturnal non-invasive ventilation

CaseAddInfo: Late Onset Pompe Disease

Patient4:

CasePresentingHPOs:

HPOsFreeText: Childhood onset Pompe

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo:

CasePMIDs:

CasePreviousTesting:

CaseGenotypingMethod: method not described

Variant1: NM_000152.3:c.1645G>C

CAID: CA401368767, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401368767

gnomAD: n/a

Variant2: NM_000152.3:c.692+1G>C

CAID: CA8814965, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8814965

gnomAD: 0.000004171, https://gnomad.broadinstitute.org/variant/17-78079694-G-C