This website provides information on patients with mutations in the ARL3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ARL3 gene is a multisystem disorder characterized by defects of the primary cilium causing Joubert Syndrome. Patients present with a molar tooth sign on axial brain MRI, dysmorphic facial features, and neurological symptoms. These features are typical of “pure” Joubert Syndrome however, patients can also present with eye, kidney, liver, and skeletal abnormalities which are related to the syndrome.

Not all individuals with a mutation in the ARL3 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 ARL3 gene.

John A Sayer, MB ChB FRCP PhD FHEA, Newcastle University, Newcastle Upon Tyne, United Kingdom, john.sayer@newcastle.ac.uk

Laura J Powell, PhD Student, Newcastle University, Newcastle Upon Tyne, United Kingdom, l.powell@newcastle.ac.uk