Patients who harbor these pathogenic variants commonly present with intellectual disability, axial hypotonia, autism, and Rett syndrome-like features (stereotyped hand movements), symptoms that are in line with the extrapolation of the microarray data showing the highest expression of Syb2 in frontal lobes and putamen (Salpietro et al., 2019; Figure 2A). The gene discussed is VAMP2; the disease is autism.