CaseC: Female, 2 months onset, 3 months diagnosis

CasePresentingHPOs: HP:0001270, HP:0003324, HP:0001638 (Motor delay, Generalized weakness, Cardiomyopathy)

HPOsFreeText: CRIM positive

CaseNotHPOs: HP:0100543, HP:0002540, HP:0004887 (Cognitive impairment, Inability to walk, Respiratory failure requiring assisted ventilation)

CaseAddInfo: Infantile-Onset Pompe Disease