DOT1L and central nervous system cancer: Evidence of association with NDDs [ZFHX3 (Fuller et al., 2018), CHD5 (Parenti et al., 2021), UBR3 (Murcia Pienkowski et al., 2020)) or enrichment of de novo LGD mutation in NDD cases (ANP32A, SKIDA1 (Coe et al., 2019)), neurodegeneration (ANP32A (Podvin et al., 2020), HECTD1 (Schmidt et al., 2021)), gliomas (LARP4B (Koso et al., 2016)), synapses and neuronal formation (LMTK3 (Takahashi et al., 2020), DOT1L (Franz et al., 2019)] have been studied in model organisms, cell lines, and families for these candidate NDD genes.