This website provides information on patients with mutations in the PSMC3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PSMC3 gene is a multisystem disorder characterized by developmental delay, speech delay, intellectual disability, abnormal behaviour, motor delay, facial dysmorphic features, brain MRI anomalies, skeletal malformations, hypotonia, gastrointestinal problems, cardiac malformations.

Not all individuals with a mutation in the PSMC3 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 PSMC3 gene.

Sébastien Küry, DVM, PhD, CHU de Nantes, Service de Génétique Médicale, Nantes, France, sebastien.kury@chu-nantes.fr

Stéphane Bézieau, PharmD, PhD, CHU de Nantes, Service de Génétique Médicale, Nantes, France, stephane.bezieau@chu-nantes.fr

Frédéric Ebstein, PhD, INSERM, L’Institut du thorax, Nantes, France, frederic.ebstein@univ-nantes.fr

Elke Krüger, PhD, Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany, elke.krueger@uni-greifswald.de