CaseB: Female, 2 months onset, 6 months diagnosis

CasePresentingHPOs: HP:0001270, HP:0003324, HP:0002540, HP:0006532, HP:0003202, HP:0004887, HP:0001638 (Motor delay, Generalized weakness, Inability to walk, Pulmonary infection, Muscle atrophy, Respiratory failure requiring assisted ventilation, Cardiomyopathy)

HPOsFreeText: CRIM positive, Has a tracheostoma, Needs ventilatory support for almost 24 h/day

CaseNotHPOs: HP:0100543 (Cognitive impairment)

CaseAddInfo: Infantile-Onset Pompe Disease