Autism is defined as a pervasive developmental disorder with symptoms concerning language- and communication skills, social relations and interaction—and also involving repetitive, stereotype behaviour. Over the years many theories concerning autism and its etiology have been researched and discussed. Focus is no longer as much on environmental aspects, but on the many indications that the cause of autism is genetic. E.g. tuberose sclerosis and Fragile-X syndrome are genetic disorders associated with autism (Smalley, 1991). Also twin- and familiy studies have strongly suggested a genetic explanation to the questions of etiology. In present article different aspects of the genetic perspective on autism are discussed. Thus the implications of using a broader phenotype in the definition of autism are considered.