Most of the CERT1 variants reported so far have been associated with intellectual disability (13) (Figure 1A, and Supplemental Table 1; supplemental material available online with this article; https://doi.org/10.1172/JCI165019DS1), but the clinical phenotype has been characterized for only 1 of these individuals, who carries a p.S135P variant (13). Here, CERT1 is linked to Intellectual disability.