SETD5

The information for this summary of SETD5-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full SETD5 Gene Guide

The online Gene Guide includes more information about SETD5 such as the chance of having another child with this condition, behavior and development concerns linked to SETD5-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

SETD5-related syndrome is also called intellectual developmental disorder, autosomal dominant 23. For this webpage, we will be using the name SETD5-related syndrome to encompass the wide range of variants observed in the people identified.

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What is SETD5-related syndrome?

SETD5-related syndrome happens when there are changes to the SETD5 gene. These changes can keep the gene from working as it should.

Key Role

The SETD5 gene plays a key role in controlling other genes.

Symptoms

Because the SETD5 gene is important for brain activity, many people who have SETD5-related syndrome have:

Developmental delay
Intellectual disability
Language delay
Obsessive-compulsive behavior
Features of autism
Sideways curve of the spine (scoliosis)
Vision issues
Low muscle tone
Short height
Predisposition for a brain blood vessel condition called moyamoya syndrome

How many people have SETD5-related syndrome?

As of 2026, about 250 people in the world with SETD5-related syndrome have been identified in a medical clinic. The first case of SETD5-related syndrome was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Support Resources

Simons Searchlight Community – SETD5 Facebook group
Unique – SETD5 Guidebook
Geisinger Developmental Brain Disorder Gene Database – SETD5
The SETD5 Syndrome Companion – https://setd5syndrome.com/

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 SETD5.

Research Article Summaries

Below, we have summarized research articles about changes in the SETD5 gene. We hope you find this information helpful.

The information available about SETD5 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SETD5 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Original research article by A. Kuechler et al. (2015).

Read the article here and the Simons Searchlight summary here.

Synaptic, transcriptional and chromatin genes disrupted in autism

Original research article by S. De Rubeis et al. (2014).

Read the article here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SETD5 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

Family Stories

Stories from SETD5 families:

Click here to share your family’s story!

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