Welcome to CHD2 UK

A collage of pictures of some of the members of our CHD2 UK group
Some of our members who have a CHD2-related disorder

Mutations and deletions on the CHD2 gene can lead to a neurodevelopmental epileptic encephalopathy, characterised by frequent epileptic seizures, intellectual disability, autistic traits and challenging behaviours.

The effect of de novo mutations on the CHD2 gene has only relatively recently been recognised, and only a few hundred cases at most have been identified worldwide. At least forty of these are in the UK.

The CHD2 UK website is intended to bring together parents and relatives of people with CHD2, alongside medical professionals and researchers. It will provide support and information on a variety of associated matters.

Thank you for visiting and we hope you find it useful!