Case1: Female, 1 month diagnosis and report, Iran, Iranian

CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

HPOsFreeText: Ejection fraction of 69%, Interventricular septum diameter in systole of 8 mm (normal value=3.5–5 mm), Interventricular septum diameter in diastole of 7 mm (normal value=3.5–5 mm), Posterior wall diameter of 9 mm in systole and 7 mm in diastole (normal value=3.5–5 mm), Decreased GAA activity detected from dried blood spot

At 20 months of age, after about 18 months of ERT (without any side effects), echocardiography was repeated and demonstrated ejection fraction of 75%, interventricular septum diameter in systole of 7 mm (normal value=5–7 mm), interventricular septum diameter in diastole of 6.5 (normal value=4.5–6.5 mm), and posterior wall diameter of 7 mm (normal value=4.5–7 mm), Her weight is 11 kg (50th percentile) and her height is 80 cm (25–50th percentile)

CaseNotHPOs: HP:0001252, HP:0000158, HP:0001627, HP:0001263 (Muscular hypotonia, Macroglossia, Abnormality of the heart, Global developmental delay)

NotHPOsFreeText: Facial picture was normal, No organomegaly

CaseAddInfo: Infantile-Onset Pompe Disease, Brother was a known case of IOPD who expired at the age of 5 months because ERT had not been started in Iran