[16] described the phenotypes of 17 patients carrying de novo LOF variants in USP9X. Some phenotypes observed in our patient were cited in the majority of the study’s patients, such as: intellectual disability or developmental delay (100% of cases), enlarged ventricles (73%), dental abnormalities (71%), scoliosis (65%), pigmentary abnormalities along Blaschko’s lines (65%), hypoplastic corpus callosum (62%), ocular abnormalities (59%), short stature (53%), hip dysplasia (47%), hypotonia (47%), and leg length discrepancy (41%) [16]. This evidence concerns the gene USP9X and scoliosis.