This website provides information on patients with mutations in the CHD5 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the CHD5 gene is an autosomal dominant, variable disorder characterized by speech and developmental delay, behavioural disturbances, intellectual disability, and epilepsy.
Not all individuals with a mutation in the CHD5 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 CHD5 gene.
We invite groups who have identified a mutation in CHD5 in a patient to submit their data to the database.
Ilaria Parenti, PhD, Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany, Ilaria.firstname.lastname@example.org
Cyril Mignot, MD, Institut du Cerveau (ICM), Sorbonne Université, Paris, France, email@example.com
Christel Depienne, PhD, Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany, firstname.lastname@example.org