Given that the synaptopathies are defined as brain disorders associated with synaptic dysfunction (Grant, 2019) and that the individuals presented in this study have clinical features overlapping those observed in individuals with synaptopathies (cognitive disorders such as intellectual disability, motor dysfunction such as ataxia and dystonia, epilepsy and psychiatric diseases such as ASD and ADHD), we coin the phenotypes associated with SLITRK3 variants as SLITRK3-related synaptopathy. This evidence concerns the gene SLITRK3 and Dystonia.