Several reports have also identified MED27 variants in a neurodevelopmental disorder characterized by key features such mental retardation, cerebellar atrophy, spasticity, hypotonia and motor deficits.2-4 Wu et al.3 showed that homozygous missense variants in the gene MED27 resulted in a significant reduction in MED27 protein expression. Here, MED27 is linked to Cerebellar atrophy.