This website provides information on patients with mutations in the THG1L gene, including clinical data, molecular data, management and research options.

The syndrome caused by bi-allelic mutations in the THG1L gene is a multisystem disorder characterized by ataxia, motor developmental delays, and cerebellar vermis hypoplasia. Symptoms may also include epileptic encephalopathy.

Not all individuals with a mutation in the THG1L 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 THG1L gene.

Rachel Rabin, MS, NYU Grossman School of Medicine, New York, United States, Rachel.rabin@nyulangone.org

John Pappas, MD, NYU Grossman School of Medicine, New York, United States, john.pappas@nyulangone.org