GRIN2D
Below is a summary for the GRIN2D gene observed in research publications. This is not meant to take the place of medical advice.
What is GRIN2D-related disorder?
GRIN2D-related disorder 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 the brain, some people may have:
- Intellectual disability
- Seizures
- Speech and language difficulties
- Autistic features
- Low muscle tone
- Movement issues
- Feeding problems
- Vision impairment
- Heart defects
- Brain changes seen on magnetic resonance imaging (MRI)
Do people who have GRIN2D-related disorder look different?
Most people who have GRIN2D-related disorder do not look different. Some people have a smaller than average head size.
How many people have GRIN2D-related disorder?
GRIN2D-related disorder is very rare. As of 2022, about 7 people in the world with GRIN2D-related disorder have been identified clinically.
Support Resources
- Simons Searchlight Community – GRIN2D Facebook group
- CureGRIN Foundation website – CureGRIN.org – CureGRIN Foundation – Facebook group
- GRIN2D Support – Facebook group
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.
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.
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.
Family Stories
We do not currently have any stories from GRIN2D families. Click here to share your family’s story!