Filges et al. identified two patients with de novo chromosomal microdeletions in 18q12.3 featuring only SETBP1. SETBP1 haploinsufficiency was suggested to be pathogenic but the phenotype seemed to be distinct from that of SGS [25] with milder developmental anomalies [26]. This evidence concerns the gene SETBP1 and Schinzel-Giedion syndrome.