This website provides information on patients with mutations in the SRRM2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SRRM2 gene is a multisystem disorder characterized by a neurodevelopmental disorder, with speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.
Not all individuals with a mutation in the SRRM2 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 SRRM2 gene.
Silvestre Cuinat, MD, Génétique Médicale, CHU de Nantes, Nantes, France, email@example.com