Patient5: Female, 4 years report, 10 months onset

CasePresentingHPOs: HP:0001640, HP:0002240, HP:0001324 (Cardiomegaly, Hepatomegaly, Muscle weakness)

HPOsFreeText: GAA activity 2.4% from leukocyte

CaseNotHPOs: HP:0002098 (Respiratory distress)

NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

CaseAddInfo: IOPD

Patient10: Male, 39 years report, 17 years onset

CasePresentingHPOs: HP:0001640, HP:0001324, HP:0002098, HP:0002240 (Cardiomegaly, Muscle weakness, Respiratory distress, Hepatomegaly)

HPOsFreeText: GAA activity 9.3% from leukocyte, Wheelchair needed, Respiratory Assistance needed

CaseAddInfo: LOPD