As it could be expected from previous reports [2], several differential diagnoses have now been identified in our cohort, including a disturbance of IGF1R (patient 5), Meier-Gorlin syndrome 1 (MGS1; ORC1, patient 6), and 3 M syndrome 2 (OBSL1, patient 7). This evidence concerns the gene OBSL1 and multiple congenital anomalies-hypotonia-seizures syndrome 3.