Hence, it can be proposed that KMT2B could also be a part of the chromatin modification module proposed by Kleefstra et al. [12], along with KMT2C, SMARCB1 and NR1I3, MBD5 and EHMT1. It is remarkable that the Kleefstra syndrome-like phenotype could be the result of recessive variant identified in family MRQ14 (Figure 1A), whereas all other previously reported gene mutations associated with KS are dominantly inherited. Here, MBD5 is linked to Kleefstra syndrome.