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ADNP

Welcome

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

The syndrome caused by mutations in the ADNP gene is called Helsmoortel-Van der Aa syndrome (OMIM #615873). It is a multisystem disorder characterized by mild to severe intellectual disability, autism spectrum disorder and other shared clinical characteristics, including facial dysmorphisms, and severe motor and speech delay. Not all individuals with a mutation in the ADNP gene share all of 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 ADNP gene.

R. Frank Kooy, Ph.D. (University of Antwerp, Antwerp, Belgium), Frank.kooy@uantwerpen.be

Anke Van Dijck, M.D. (University of Antwerp, Antwerp, Belgium), Anke.VanDijck@uantwerpen.be

Bert de Vries, M.D., Ph.D. (Radboud University Medical Center, Nijmegen, The Netherlands), Bert.deVries@radboudumc.nl

Evan Eichler, Ph.D. (University of Washington, Seattle, USA), eee@gs.washington.edu

Clinical characteristics

Clinical characteristics

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Upload clinical information (parents)

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