Case5: Female, 11 months report and onset, Algeria, African

CasePresentingHPOs: HP:0002098, HP:0002883, HP:0000961, HP:0030829, HP:0001290, HP:0003236, HP:0003198, HP:0002878 (Respiratory distress, Rapid breathing, Cyanosis, Abnormal breath sound, Generalized Hypotonia, Increased serum CK, Myopathy, Respiratory failure)

HPOsFreeText: Intercostal and subcostal retraction, Diffuse infiltrative process involving the left lung field, CK rate was 3 times the normal value and AST and ALT were 2 times the normal value, GAA activity was deficient

CaseNotHPOs: HP:0030148, HP:0011675, HP:0001315, HP:0001291, HP:0003115 (Heart murmur, Arrhythmia, Decreased/absent deep tendon reflexes, Cranial nerve abnormality, Abnormal ECG)

CaseAddInfo: Proband was the second born child of healthy consanguineous parents, Pregnancy was uneventful,