RORB

Below is a summary for the RORB gene observed in research publications. This is not meant to take the place of medical advice.

What is RORB-related syndrome?

RORB-related syndrome happens when there are changes to the RORB gene. These changes can keep the gene from working as it should.

The RORB gene is located on chromosome 9, in a region called 9q21. Some people are missing a piece of chromosome 9q21 that includes the RORB gene and have what is called a 9q21-related syndrome. Others have a small change within the RORB gene itself. People who have these different syndromes have symptoms that overlap.

Key Role

The RORB gene plays a key role in the growth of different types of brain cells.

Symptoms

Because the RORB gene is important in the development and function of brain cells, many people who have RORB-related syndrome have:

Developmental delay, or intellectual disability, or both
Autism or features of autism
Seizures
Speech issues

Do people who have RORB-related syndrome look different?

People who have RORB-related syndrome do not look different.

Support Resources

Simons Searchlight Community – RORB Facebook group
Geisigner Developmental Brain Disorder Gene Database – RORB

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for RORB.

Research Article Summaries

We currently do not have any article summaries for RORB, but we add resources to our website as they become available.

The information available about RORB is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about RORB genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from RORB families.

Click here to share your family’s story!