Below is a summary for the SETD5 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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.


Many people who have SETD5-related syndrome have:

  • Intellectual disability
  • Language delay
  • Differences in facial features

Do people who have SETD5-related syndrome look different?

People who have SETD5-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Short head, also called brachycephaly
  • Large, high forehead
  • Eyebrows that meet in the middle of the forehead or are full and broad
  • Long, thin, tube-shaped nose
  • Long, narrow, up-slanting openings of the eyelids, also called palpebral fissures
  • Large, fleshy, low-set ears

Many people who have the syndrome have behavior issues. This can include obsessive-compulsive disorder, hand-flapping, or symptoms of autism. Some people have involuntary movements, but these are not long-lasting.



Almost everyone who has the syndrome has some level of intellectual impairment or developmental delay. Most can talk and communicate their needs.



10 out of 14 people had an unsteady walk.


Support Resources



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

We do not currently have any stories from SETD5 families.

Click here to share your family’s story!