This website provides information on patients with mutations in the ADGRL1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in ADGRL1 is characterized by a broad and variable spectrum of neurodevelopmental disorders, including developmental delay, intellectual disability and neuropsychiatric disorders (autism spectrum disorder, attention deficit/hyperactivity disorder).

Others features such as epilepsy, hypotonia, macrocephaly and dysmorphic facial features were also reported in this syndrome.

Not all individuals with a mutation in the ADGRL1 gene have all these features and the severity of symptoms associated with this syndrome seems to vary from one individual 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 ADGRL1 gene.

Benoit Mazel, MD, Genetics center, Dijon Bourgogne University Hospital, Dijon, France, benoit.mazel@chu-dijon.fr

Antonio Vitobello, PhD, Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France, antonio.vitobello@u-bourgogne.fr