PURA syndrome is caused by pathogenic variants in Purine-rich element-binding protein A (PURA) gene, which was first identified as the causative variant within the critical deletion segment of 5q31.3 microdeletion syndrome by Lalani et al. in 2014 in 11 individuals with neonatal hypotonia, severe developmental delay with or without epilepsy [25]. Here, PURA is linked to Global developmental delay.