For the detectedCNV, the total score according to the ACMG algorithmconsidering the X-chromosome inactivation status was 1.1.Based on the overall results, this variant may be interpreted aspathogenic, which may lead to clinical symptoms in patients.Based on the analysis of clinical cases reported in the literature,it is possible to assume that cognitive impairments may beassociated with an increased expression of the RAB39B genedue to changes in the number of copies of this region. Here, RAB39B is linked to Cognitive impairment.