This website provides information on patients with mutations in the CNOT2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CNOT2 gene is a multisystem disorder characterized by developmental delay/ intellectual deficiency, speech delay with nasal speech, hypotonia and a distinctive facial appearance.

Not all individuals with a mutation in the CNOT2 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 CNOT2 gene.

Jean-Marc Good, MD, PhD, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland, jean-marc.good@chuv.ch