The main clinical features of Lamb-Shaffer syndrome are developmental delay, speech delay, intellectual disability, and behavioural disturbances, but other symptoms, such as epilepsy, eye and skeletal malformations, can also be present. We aim to collect information about affected individuals and families to understand the variability of the syndrome and find possible modifiers of disease expression. Furthermore, Patient registry is the first step to gather data on effective treatments and therapies. This knowledge will be important to predict the development of newly diagnosed individuals in the future and to develop new therapeutic approaches.
SOX5