Forty cases of Seckel syndrome have been reported to date in the literature due to mutations in the <i>ATR</i>, <i>TRAIP</i>, <i>RBBP8</i>, <i>NSMCE2</i>, <i>NIN</i>, <i>CENPJ</i>, <i>DNA2, CEP152</i> and <i>CEP63</i> genes. This evidence concerns the gene CEP152 and Seckel syndrome.