TBC1D20

This website provides information on patients with mutations in the TBC1D20 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TBC1D20 gene is a multisystem disorder characterized by abnormalities involving the ocular, nervous, and endocrine systems. Within this multisystem disorder, two conditions are recognizable including Warburg micro syndrome and Martsolf syndrome, which shares many characteristics, although Martsolf syndrome is less severe and less frequently reported.
Not all individuals with a mutation in the TBC1D20gene 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 TBC1D20 gene.

Alessandro de Luca, PhD, Medical Genetics Laboratory, CSS-Mendel Institute, Rome, Italy, a.deluca@css-mendel.it

Davide Scarselli, BsC, Specialist in Medical Genetics, Neurologic Disorders Research Unit, Casa Sollievo della Sofferenza Hospital, Rome, Italy, d.scarselli@operapadrepio.it