Patients with this disorder, named PURA syndrome, share several symptoms with patients developing the 5q31.3 microdeletion syndrome, suggesting that the lack of PURA accounts for many of the clinical features observed in the 5q31.3 microdeletion syndrome (Reijnders et al., 2017). This evidence concerns the gene PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.