This website provides information on patients with mutations in the PCDH12 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in PCDH12 is a multisystem disorder characterized either by global developmental delay, microcephaly, dystonia, and a midbrain malformation at the diencephalic–mesencephalic junction; or cerebral palsy combined with a neurodevelopmental disorder; or cerebellar ataxia with retinopathy.

Not all individuals with a mutation in the PCDH12 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 PCDH12 gene.

Francesca Mattioli, PhD, Postdoctoral Researcher, Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland, Francesca.mattioli@unil.ch