This website provides information on patients with mutations in the SMS gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SMS gene (Snyder Robinson syndrome, OMIM # 309583) is an X-linked intellectual disability syndrome characterized by hypotonia, general asthenia, global developmental delays/intellectual disability, seizures, unsteady gait, dysarthric speech, osteoporosis, and kyphoscoliosis. Not all individuals with a mutation in the SMS gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SMS gene.
Angela Peron, MD, Child Neuropsychiatric Unit - Epilepsy Center, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy. Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA, Milan, Italy, firstname.lastname@example.org
Charles E. Schwartz, PhD, Greenwood Genetic Center (retired), Greenwood, SC, USA, Charles.email@example.com