Studies of abnormal populations provide a rare opportunity for examining re
lationships between cognition, genotype and brain neurobiology, permitting
comparisons across these different levels of analysis. In our studies, we i
nvestigate individuals with a rare, genetically based disorder called Willi
ams syndrome (WMS) to draw links among these levels. A critical component o
f such a cross-domain undertaking is the clear delineation of the phenotype
of the disorder in question. Of special interest in this paper is a relati
vely unexplored unusual social phenotype in WMS that includes an overfriend
ly and engaging personality. Four studies measuring distinct aspects of hyp
ersocial behavior in WMS are presented, each probing specific aspects in WM
S infants, toddlers, school age children, and adults. The abnormal profile
of excessively social behavior represents an important component of the phe
notype that may distinguish WMS from other developmental disorders. Further
more, the studies show that the profile is observed across a wide range of
ages, and emerges consistently across multiple experimental paradigms. Thes
e studies of hypersocial behavior in WMS promise to provide the ground-work
for crossdisciplinary analyses of gene-brain-behavior relationships.