This website provides information on patients with mutations in the CELF4 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CELF4 gene is a multisystem disorder characterized by neurodevelopmental disorder including febrile seizures/epilepsy, clumsiness,  intellectual disability of variable degree, autism spectrum disorder, autism features and/or behavioral disturbances such as impulsiveness, restless and anxiety disorder
Not all individuals with a mutation in the CELF4 gene may  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 CELF4 gene.

Rita Barone, PhD, University of Catania, Catania, Italy, rbarone@unict.it