Clinical evaluation and biochemical investigations excluded CL and prompted to perform whole exome sequencing, which confirmed the absence of pathogenic variants in all CL‐related genes and revealed the known PURA c.697_699del, p.(Phe233del) variant, identified hitherto in seven additional children with PURA syndrome. Here, PURA is linked to PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.