By February 2021, 232 cases of Ankrd11 gene mutation had been included in the professional version of HGMD database, among which 161 gene mutations lead to KBGS, 6 gene mutations resulted in Cornelia de Lange syndrome,[15–17] 11 mutations caused autism-related symptoms, and another handful of variations were associated with abnormalities in the development of the nervous system or organs. Here, ANKRD11 is linked to Cornelia de Lange syndrome.