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

Mutations in the RORA gene cause a syndrome called Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA). It is characterized by two distinct phenotypes which correlate with the type of functional effect of the variant: de novo or dominantly inherited loss-of-function variants cause intellectual disability with autistic features; and contrasts with de novo dominant toxic variants, which cause intellectual disability, ataxia and cerebellar atrophy. Not all individuals with a mutation in RORA have these features.

This website was created to share and collect information about clinical management and research projects to gather more knowledge and provide better treatment of patients with mutations in RORA.

Sébastien Küry, D.V.M., Ph.D., CHU de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France, sebastien.kury@chu-nantes.fr

Laurent Pasquier, M.D., Ph.D., Service de Génétique Clinique, Centre de Référence ‘‘Déficiences Intellectuelles de causes rares’’ (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, France, laurent.pasquier@chu-rennes.fr

Erica Davis, Ph.D., Center for Human Disease Modeling, Duke University Medical Center, Durham, USA, erica.davis@duke.edu

Michel Koenig, M.D., Ph.D., EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, France, michel.koenig@inserm.fr

Gaëtan Lesca, M.D., Ph.D., Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, France, gaetan.lesca@chu-lyon.fr