Cabezas syndrome (OMIM 300354) is a rare syndromic form of X-linked intellectual disability caused by de novo or inherited variants in the CUL4B gene [1]. At least 83 cases (56 families) carrying CUL4B pathogenic variants have been reported to date [2]. The gene is located on chromosome Xq24, contains 22 exons and encodes the protein cullin 4B, belonging to the cullin-RING ubiquitin ligase family which regulates the degradation of cellular proteins [3]. Pathogenic mutations are heterogenous and include truncating, missense, splice-site, and deletion variants.
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