This website provides information on patients with mutations in the TELO2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TELO2 gene is a multisystem disorder with a predominant neurological involvement, characterized by developmental delay/intellectual disability, balance disorder up to ataxia, and spasticity, microcephaly and facial anomalies.
Not all individuals with a mutation in the TELO2 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 TELO2 gene.

Claudia Ciaccio, MD, Pediatric Neurosciences Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy, claudia.ciaccio@istituto-besta.it

Stefano D’Arrigo, MD, Pediatric Neurosciences Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy, stefano.darrigo@istituto-besta.it

Chiara Pantaleoni, MD, Pediatric Neurosciences Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy, chiara.pantaeloni@istituto-besta.it