This website provides information on patients with mutations in the SNX14 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SNX14 gene is a multisystem disorder characterized by severe intellectual disability, absent to severe speech delay, behavioural abnormalities, seizures, cerebellar ataxia and coarse facial features.

Not all individuals with a mutation in the SNX14 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 SNX14 gene.

Shubha R Phadke, MD, DM, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, shubharaophadke@gmail.com

A Haseena, MD, DM, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, hasi.flower@gmail.com