It's difficult navigating the world of CASK gene mutations

See the links below for detailed advice on family support, prognosis, common medical issues and stories from families who have been there.

Have you signed up to the CASK data registry yet?

Since we are a tiny community it is so important for every family to register with the community registry, or the data collection programme (DCP), as it is formally called. This is a patient owned database that collates and collects de-personalised medical information of children with CASK.  

Support for CASK gene mutation families


Advice, ideas, understanding CASK gene mutations and links to services that can help


CASK gene related disorders are a spectrum of conditions. No two children are the same. Each will write their own destiny.

Common issues

Some medical conditions are more common in those with CASK gene mutations.

CASK families are not alone. Our close community each have their own individual story. Read about their journeys

Family stories

Stories from UK families living with a diagnosis.

Newly diagnosed

Advice from families living with a CASK gene mutation.

Activating CASK in enough cells could reverse CASK gene disorder symptoms

Useful publications

Read the research on CASK or direct your clinicians to this information.

The charity Unique has created this informative guide on CASK related disorders. Please download.

We are always in need of photos for our promotional materials. Please download the photo permission form and return to us with some photos of your amazing CASK children.