CSDE1 and Neurodevelopmental abnormality: We identified de novo exonic insertions in genes with a high probability of LoF intolerance or haploinsufficiency (pLI ≥ 0.9) [36] only in affected individuals (Table 1 and Additional file 2: Table S2), including an exonic insertion in CSDE1, a gene recently implicated in patients with ASD and neurodevelopmental disabilities [22].