SLC9A6

This website provides information on patients with mutations in the SLC9A6gene, including clinical data, molecular data, management, and research options.

Mutations in the SLC9A6gene cause Christianson syndrome, an X chromosome-linked multisystem disorder characterized by moderate to severe developmental delay / intellectual disability, autistic behaviour, epilepsy, regression in early childhood, mutism (i.e., nonverbal status), postnatal microcephaly, hyperkinesis, truncal ataxia, and cerebellar atrophy.

Not all individuals with a genetic variation or mutation in the SLC9A6gene 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 SLC9A6gene.

John Orlowski, PhD, Department of Physiology, McGill University, Montreal, Quebec, Canada, john.orlowski@mcgill.ca
Mike Field, PhD, Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia, mike.field@health.nsw.gov.au