This website provides information on patients with mutations in the PRMT7 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PRMT7 gene is a multisystem disorder characterized by intellectual disability, hypotonia, seizures, dysmorphic features, short stature, abnormalities of hands and feet, and delayed myelination. Not all individuals with a mutation in the PRMT7 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 PRMT7 gene.

Marcello Scala, MD, Dipartimento di Neuroscienze, Università degli Studi di Genova, Genoa, Italy, marcelloscala87@gmail.com

Reza Maroofian, PhD, UCL Queen Square Institute of Neurology, University College London, London, UK, r.maroofian@ucl.ac.uk

Elisa Calí, MD, UCL Queen Square Institute of Neurology, University College London, London, UK, e.cali@ucl.ac.uk