Very interestingly, of these 47 cases, four had relatively small deletions (1–1.5 Mb in size): a 1,048-kb deletion (case 10, Additional file 2: Table S2) involving the PTCH1 gene (OMIM 601309) and diagnosis of Gorlin syndrome (OMIM #109400), a 1,349-kb deletion (case 15) involving the STXBP1 gene and diagnosis of early infantile epileptic encephalopathy (OMIM #612164), and two 9q34.3 deletions of 1,218 kb and 1,268 kb (case 31 and 32). This evidence concerns the gene PTCH1 and infantile epileptic encephalopathy.