The UBTF E210K neuroregression syndrome, a distinct, predominantly neurological disorder, is caused by recurrent de novo dominant variants in UBTF (NM_014233.3:c.628G>A, p. Glu210Lys) (ClinVar SCV000598648.1) (Edvardson et al., 2017; Toro et al., 2018). Here, UBTF is linked to nervous system disorder.