Learn more about CLCN4 and connect with other Simons Searchlight families with the resources below.
What is CLCN4-related disorder?
CLCN4-related disorder happens when there are changes to the CLCN4 gene. These changes can keep the gene from working as it should. The CLCN4 gene is found on the X chromosome, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.
CLCN4 plays a key role in brain function.
People who have CLCN4-related disorder may have:
- Intellectual disability
- Behavior issues such as features of autism, mood disorders, obsessive-compulsive behaviors
Do people who have CLCN4-related disorder look different?
Younger children and females who have CLCN4-related disorder usually do not look different, but older males may look a bit different. Older males may have some but not all of these features:
- Long face with straight nose
- Pointed chin
- Flat midface
Research Article Summaries