We also identified de novo and inherited sequence variants of potential relevance in this family, including a rare missense change in GRIK5. The latter was not as compelling of a candidate variant as the microdeletion overlapping DMXL2 because of (i) the predicted less-severe nature of the genetic lesion, (ii) the current absence of overt functional or model organism data at the gene level, and (iii) our inability to adequately replicate the finding in the population-scale NDD cohorts. Here, DMXL2 is linked to Neurodevelopmental delay.