MBD5
The information for this summary of MBD5-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full MBD5 Gene Guide
The online Gene Guide includes more information about MBD5 such as the chance of having another child with this condition, behavior and development concerns linked to MBD5-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
MBD5-related syndrome is also called MBD5-associated neurodevelopmental disorder (MAND). For this webpage, we will be using the name MBD5-related syndrome to encompass the wide range of variants observed in the people identified.
What is MBD5-related syndrome?
MBD5-related syndrome happens when there are changes in the MBD5 gene. These changes can keep the gene from working as it should.
Key Role
The MBD5 gene plays a key role in the development and function of the brain. It is also important for other organs, including the heart and intestines.
Symptoms
Because the MBD5 gene is important for brain activity, many people who have MBD5-related syndrome have:
- Developmental delay
- Intellectual disability
- Motor delay
- Speech impairments
- Seizures
- Autism spectrum disorder
- Behavioral issues, including sleep issues, repetitive behaviors, and short attention span
- Low muscle tone
- Smaller than average head size (microcephaly)
- Walking or movement issues
- Overeating or feeding challenges
How many people have MBD5-related syndrome?
As of 2026, about 175 people with MBD5-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – MBD5 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – MBD5
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 MBD5.
Research Article Summaries
Below, we have summarized research articles about changes in the MBD5 gene. We hope you find this information helpful.
The information available about MBD5 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 MBD5 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
Original research article by S. Girirajan et al. (2013).
Read the abstract here and the Simons Searchlight summary here.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Original research article by B.J. O’Roak et al. (2012).
Read the abstract here and the Simons Searchlight summary here.
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
Original research article by T. Kleefstra et al. (2012).
Read the abstract here and the Simons Searchlight summary here.
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Original research article by G.L. Carvill et al. (2013).
Read the abstract here and the Simons Searchlight summary here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about MBD5 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.