In a study using large-scale sequencing, sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit of Pol II, showed neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay, namely, neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) (Haijes et al., 2019). This evidence concerns the gene POLR2A and neurodevelopmental disorder.