“…Morever, in recent years, it has become clear that MCPH has both a genetic and clinical overlap with other neurodevelopmental disorders, such as Seckel syndrome, Meier-Gorlin syndrome, and microcephalic primordial dwarfism. For instance, biallelic defects in the genes CPAP/CENPJ and CEP152 have been associated to both MCPH and Seckel syndrome [Bond et al, 2005;AlDosari et al, 2010;Guernsey et al, 2010;Kalay et al, 2011], CENPE mutations to MCPH and microcephalic primordial dwarfism [Mirzaa et al, 2014], while STIL mutations have been found both in patients with MCPH and holoprosencephaly (HPE) [Kumar et al, 2009;Kakar et al, 2015;Mouden et al, 2015], leading to the conclusion that this group of disorders may be considered as a clinical continuum rather than individual entities [Barbelanne and Tsang, 2014;Morris-Rosendahl and Kaindl, 2015].…”