Finally, three children with ventriculomegaly (a structural anomaly) in our sample had genetic mutations in DPYD, NAA15, and SEZL6. Consistent with these findings, ventriculomegaly has previously been reported in a child with a DPYD mutation [60] as well as in children with a 4q31.1 deletion and 16p11.2 duplications, which include the NAA15 and SEZL6 genes, respectively [61, 62]. The gene discussed is DPYD; the disease is Ventriculomegaly.