This website provides information on patients with mutations in the NAA20 gene.

The syndrome caused by mutations in the NAA20 gene is a multisystem disorder, including variable levels of developmental delay and intellectual disability, microcephaly with brain malformations, and variable presence of ataxia, congenital heart defects and epilepsy.  
Not all individuals with a mutation in the NAA20 gene have all these features.

This is an extremely rare disorder whose knowledge is currently limited to a few cases reported in the literature.

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 NAA20 gene.

Gianluca D'Onofrio, MD, University of Genoa, Genoa, Italy,

Andrea Accogli, MD, McGill University, Montreal, Canada,

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