Overall, the Kansl1l data indicated many phenotypic similarities in organs, such as heart, kidney, testes, and eye, between the KO mouse and patients suffering from the rare monogenic Koolen-de Vries syndrome (Moreno-Igoa et al. 2015) (Koolen et al. 2016) (Amenta et al. 2022). The gene discussed is KANSL1L; the disease is Koolen-de Vries syndrome.