Interestingly, mutations in the FBRSL1 paralogue AUTS2 (NG_034133.1, activator of transcription and developmental regulator) were first described in 2013 as causative of an intellectual disability syndrome with microcephaly and, in some cases, additional features like heart defects and contractures (AUTS2 syndrome, OMIM 615834) (Beunders et al. 2013). The gene discussed is FBRSL1; the disease is autism spectrum disorder due to AUTS2 deficiency.