The deleted region contains 20 genes, including ABCC1, ABCC6, FOPNL, MPV17L, MYH11, NDE1 and NTAN1. This boy had severe congenital microcephaly resembling that described in those patients with homozygous mutations in NDE1 gene [9–12], so we attempted to detect genetic mutations in NDE1 by performing Sanger Sequencing. This evidence concerns the gene NDE1 and microcephaly.