These patients had a chromosome 16 microdeletion spanning NDE1 on one allele and one of these two mutations on the remaining allele; Paciorkowski et al. (2013) described the clinical profile of these patients as an intermediate between the lissencephaly-4 and MHAC phenotypes previously reported (Figure 3B; Alkuraya et al., 2011; Bakircioglu et al., 2011; Guven et al., 2012; Tan et al., 2017; Abdel-Hamid et al., 2019). This evidence concerns the gene NDE1 and Lissencephaly.