A de novo missense variant in the RORB gene has been identified in an ASD proband from the Simons Simplex Collection by Iossifov et al. (2014)Rudolf et al. (2016) found that two individuals from patients with de novo mutations involving RORB also presented with autism spectrum disorder. Boudry-Labis et al. (2013) found that RORB was one of four genes within the minimal region of overlap in 9q21.13 microdeletion syndrome, a disorder characterized by autistic features. This evidence concerns the gene RORB and syndrome caused by partial chromosomal deletion.