CaseD: Female, 9 months onset, 12 months diagnosis

CasePresentingHPOs: HP:0001270, HP:0003324 (Motor delay, Generalized weakness)

HPOsFreeText: CRIM positive, Requires non-invasive ventilation during nighttime

CaseNotHPOs: HP:0100543, HP:0002540, HP:0001638 (Cognitive impairment, Inability to walk, Cardiomyopathy)

CaseAddInfo: Infantile-Onset Pompe Disease