ARX

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

Click here for our full ARX Gene Guide

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

ARX-related syndrome is also called Partington syndrome, Proud syndrome, intellectual developmental disorder, X-linked 29, developmental and epileptic encephalopathy 1 (DEE1), hydranencephaly with abnormal genitalia, lissencephaly, X-linked 2, and Ohtahara syndrome. For this webpage, we will be using the name ARX-related syndrome to encompass the wide range of variants observed in the people identified.

What is ARX-related syndrome?

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

The ARX gene is located on the X chromosome, which is one of the sex chromosomes. Males usually have the condition, but sometimes females have the condition, including the female biological parent.

Key Role

The ARX gene is important for development of the central nervous system (brain and spinal cord).

Symptoms

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

  • Developmental delay
  • Intellectual disability
  • Low muscle tone
  • High muscle tone
  • Movement disorders
  • Vision issues
  • Speech issues
  • Genital development issues
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)

How many people have ARX-related syndrome?

As of 2024, at least 120 people with ARX-related syndrome have been described in medical research.

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Support Resources

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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 ARX.

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Research Article Summaries

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

The information available about ARX 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 ARX articles can be found here.

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

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ARX 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.

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Family Stories

We do not currently have any stories from ARX families.

Click here to share your family’s story!