PURA syndrome which comprises PURA-related neurodevelopmental disorders (MIM600473), is caused by causative variants in the PURA gene; and 5q31.3 microdeletion syndrome, caused by 5q31.3 microdeletion which may encompass all, or part, of PURA [15]. The gene discussed is PURA; the disease is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.