This website provides information on patients with mutations in the TBR1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TBR1 gene is a multisystem disorder characterized by a syndromic neurocognitive disorder that includes intellectual disability and/or autism spectrum disorders, and unspecific associated features such as a behavior disorder, facial particularities, epilepsy, abnormal movements, abnormal cerebral MRI, growth disorder, and skeletal anomalies.

Not all individuals with a mutation in the TBR1 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 TBR1 gene.

Sophie Nambot, MD, PhD, Hôpital d’Enfants, CHU Dijon Bourgogne, Dijon, France, Sophie.nambothu-dijon.fr

Olaf Bodamer, MD, PhD, Boston Children’s Hospital, Boston, USA, olaf.bodamer@childrens.harvard.edu

Hannelore Ehrenreich, MD, PhD, Max Planck Institute of Experimental Medicine, Göttingen, Germany, ehrenreich@em.mpg.de

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