Autism is a neurodevelopmental disorder characterized by impairments in social interaction and communication, associated with restricted interests and stereotyped behavior. It has a high prevalence in the population, neurobiological foundations, and high heritability. Its etiology is heterogeneous, with numerous genetic factors, environmental influences, and epigenetic mechanisms recognized. Advances in molecular genetics, as well as epidemiological studies of large cohorts, have made it possible to identify specific medical conditions, as well as genes and environmental factors partially or fully associated with their pathogenesis. This knowledge, in accordance with clinical characteristics, allows for directing further research, drawing conclusions about clinical prognosis, and focusing on genetic counseling.