Comparing the clinical phenotypes of 218 patients with truncated variation and 13 patients with missense variation in the ANKRD11 gene, the frequency of global developmental delays and intellectual disability/learning difficulties in patients with truncation variation was higher than that in patients with missense variation in the ANKRD11 gene, which may be related to the loss of function of the ANKRD11 protein in nervous system development caused by truncation variation. This evidence concerns the gene ANKRD11 and Intellectual disability.