This website provides information on patients with mutations in the DPYSL5 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the DPYSL5 gene is a multisystem disorder mainly characterised by a neurodevelopmental disorder combining global developmental delay, moderate to severe intellectual disability and cerebral malformations, mainly of the corpus callosum and cerebellum. It is a rare genetic syndrome.

It is a syndrome of variable expressivity, meaning that not all people with a variation in the DPYSL5 gene have all the symptoms, and some symptoms may differ from one person to another.

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 DPYSL5 gene.

Frédéric Laumonnier, PhD, INSERM, University of Tours, and University Hospital of Tours, Tours, France, frederic.laumonnier@inserm.fr or frederic.laumonnier@univ-tours.fr
Marie-Line Jacquemont, MD, PhD, Department of Genetics, University Hospital of Tours, Tours, France, ml.jacquemont@chu-tours.fr
Solène Remize, MD, Department of Genetics, University Hospital of Tours, Tours, France, s.remize@chu-tours.fr
Marie-Laure Vuillaume-Winter, PhD, Department of Genetics, University Hospital of Tours, Tours, France, m.winter@chu-tours.fr