CDKL5 and craniodiaphyseal dysplasia: This necessity arises also from the need to improve the diagnostic accuracy of CDD since some of the untranslated exonic regions of CDKL5 were routinely excluded from the diagnostic screenings because they are considered unfunctional (Hector et al., 2017a,b) although SNPs with possible pathological consequences have been described (Nemos et al., 2009; Mei et al., 2010).