We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This evidence concerns the gene PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.