In addition, many of the genes shown in Additional file 2 (e.g. SCN1A, ANKRD11, KMT2A, SYNGAP1, SATB2, CHD7, STXBP1, SHANK3) have been shown to be associated with autism and other neurodevelopmental phenotypes (e.g. [57–63]). Because neurodevelopmental disorders share genetic risk genes and variants (inherited and de novo), they have been postulated to represent a continuum of etiological and genetic factors [64–66]. The gene discussed is STXBP1; the disease is neurodevelopmental disorder.