This website provides information on patients with mutations in the ARF1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ARF1 gene is a multisystem disorder characterized by intellectual disability (ranging from mild to severe), often accompanied by speech delay and motor delay. Microcephaly is present in approximately half of the individuals. Seizures of various types occur in about half of the affected individuals. A significant proportion shows brain MRI abnormalities consistent with neuronal migration disorders, such as periventricular nodular heterotopia (PVNH), cortical dysplasia, polymicrogyria, and thin corpus callosum. Other frequently observed features include visual or hearing impairments and, interestingly, some inflammatory features like cutaneous or hepatic manifestations have been reported.

Not all individuals with a mutation in the ARF1 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 ARF1 gene.

Jean-Madeleine de Sainte Agathe, MD, APHP-Sorbonne Université, Paris, France, jean-madeleine.desainteagathe@aphp.fr