Williams syndrome phenotype
Williams syndrome (WS) is a rare neurodevelopmental condition that has been identified as
having unique medical, cognitive and behavioural features associated with deletion of
multiple adjacent genes at chromosome 7. As discussed in thesubsequent sections deletions
of the elastin gene (ELN) plays a major role in the development of the cardiovascular and
dysmorphic features. Other genes in the microdeletion region may contribute to other
characteristics or traits, especially development of the central nervous system (CNS) and
peripheral nerves.