Abstract
This paper discusses issues arising from studies of the particular behavioural and psychopathological traits associated with genetic intellectual disability syndromes. These traits constitute what are now called behavioural phenotypes. The mechanism of inheritance of the Fragile X gene has now been demonstrated, and behavioural correlates identified. The behavioural disturbances associated with Williams syndrome are an example of new psychiatric disorders being identified through behaviour phenotype studies. A number of methodological principles should be followed before valid behaviour phenotypes can be formulated.