Interestingly, four of these LoF variants disrupted genes previously implicated in neurodevelopmental disorders: KAT6A (c.1599-56_1621del in proband 10), SETBP1 (c.1781del, p.P594Lfs*36 in proband 13), TNRC6B (c.2040G>A, p.W680* in proband 15) and ZFHX4 (c.3646-1G>A in proband 14) [45–48]. The gene discussed is SETBP1; the disease is neurodevelopmental disorder.