Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG, DDD Study, Harakalova M, Duran KJ, Savelberg SM, et al. Hum Mol Genet. 2016 Jun 1; 25(11):2158-2167. Epub 2016 Mar 22.