Below is a summary for the CUL3 gene observed in research publications. This is not meant to take the place of medical advice.

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What is CUL3-related neurodevelopmental disorder?

CUL3-related neurodevelopmental disorder happens when there are changes to the CUL3 gene. These changes can keep the gene from working as it should.

Changes in the CUL3 gene can also cause another condition called pseudohypoaldosteronism type 2A (PHA2) or Gordon’s syndrome.

Gene changes that cause PHA2 occur in specific regions of CUL3: regions called intron 8, exon 9 or intron 9. Gene changes that cause CUL3-related syndrome are thought to occur in other regions of the gene.

The information below covers gene changes that lead to CUL3-related neurodevelopmental disorder.

Key Role

The CUL3 gene is involved in several developmental processes in the body, including regulation of the cell cycle, response to stress, cell-to-cell communication, DNA replication, and the circadian rhythm.


Because the CUL3 gene is important for the proper function of the body’s cells, some people may have:

  • Heart defects
  • Difficulty feeding
  • Global development delay
  • Intellectual disability
  • Speech difficulty
  • Issue with walking
  • Seizures
  • Autism
  • Brain changes seen on magnetic resonance imaging (MRI)

Do people who have CUL3-related neurodevelopmental disorder look different?

CUL3-related neurodevelopmental disorder is very rare, and it is unknown if people with this condition look different. Some people have had a smaller than average head size.

How many people have CUL3-related syndrome?

As of 2023, about 21 people with CUL3-related syndrome have been described in medical research. Only seven people have been described in detail.


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.

Check out the GeneReviews for CUL3-related pseudohypoaldostrenism type II*.

*Please note that genetic changes in CUL3 can result in one of two different conditions. Some genetic changes result in the person having pseudohypoaldostrenism type II, other genetic changes result in CUL3-related neurodevelopmental disorder. We are still learning more about how CUL3 can cause these two health conditions. There is no GeneReviews for CUL3-related neurodevelopmental disorder, which is applicable for most families participating in Simons Searchlight, not pseudohypoaldostrenism type II that is linked here. If you have any questions about this difference or would like more information please contact our team (


Research Article Summaries

We currently do not have any article summaries for CUL3, but we add resources to our website as they become available.

The information available about CUL3 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.

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 CUL3 articles can be found here.

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


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CUL3 genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

Stories from CUL3 families:

Click here to share your family’s story!