GRIN2D

Below is a summary for the GRIN2D gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full GRIN2D Gene Guide

The online Gene Guide includes more information about GRIN2D such as the chance of having another child with this condition, behavior and development concerns linked to GRIN2D-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

GRIN2D-related syndrome is also called GRIN2D-related developmental and epileptic encephalopathy. For this webpage, we will be using the name GRIN2D-related syndrome to encompass the wide range of variants observed in the people identified.

What is GRIN2D-related syndrome?

GRIN2D-related syndrome happens when there are changes in the GRIN2D gene. These changes can keep the gene from working as it should.

Key Role

The GRIN2D gene plays an important role in proper brain cell function.

Symptoms

Because the GRIN2D gene is important for brain activity, many people who have GRIN2D-related syndrome have:

  • Intellectual disability
  • Seizures
  • Speech and language difficulties
  • Features of autism
  • Low muscle tone, also called hypotonia
  • Movement issues
  • Feeding problems
  • Vision impairment
  • Heart defects
  • Brain changes seen on magnetic resonance imaging (MRI)

How many people have GRIN2D-related syndrome?

As of 2025, more than 24 people with GRIN2D-related syndrome have been identified 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. Check out the GeneReviews for GRIN2D.

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Research Article Summaries

We currently do not have any article summaries for GRIN2D, but we add resources to our website as they become available.
The information available about GRIN2D 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 GRIN2D articles can be found here.

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Research Opportunities

Simons Searchlight Help the Simons Searchlight  team learn more about GRIN2D 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 GRIN2D families. Click here to share your family’s story!