This website provides information on patients with mutations in the ARID2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ARID2 gene is a multisystem disorder characterized by intellectual disability, hypotonia, and behavioural abnormalities. Birth defects are not common. Several individuals have demonstrated Coffin-Siris syndrome-associated features, such as mild hypoplasia of the fifth fingernails and hypoplasia of the fifth toenails and facial features: coarse features, frontal bossing and high forehead, flat nasal bridge, slightly broad nose with upturned nasal tip and thick, anteverted alae nasi, prominent philtrum, and a large mouth with a thick lower vermilion. Not all individuals with a mutation in the ARID2 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 ARID2 gene.
We invite clinicians who have identified a mutation in ARID2 in a patient to submit their data to the database.
Nuria Braemswig, MD, Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany, firstname.lastname@example.org
Gijs Santen, MD, PhD, Leiden University Medical Center, Leiden, The Netherlands, email@example.com