BRWD3 Foundation Join us
A parent-led family group

Families connecting for BRWD3

BRWD3-related disorder is very rare, and many families search for years without meeting anyone else who understands. The BRWD3 Foundation brings families together, helps them take part in research, and welcomes the scientists working toward answers.

Are you a BRWD3 family? For researchers

What is BRWD3-related disorder?

A plain-language overview drawn from medical databases and published research. Every person is different, so please talk with your own doctors and genetics team.

  • It starts with one gene. BRWD3 is a gene on the X chromosome. Changes (variants) that stop it from working properly cause a condition doctors call X-linked intellectual developmental disorder 93 (XLID93, also called MRX93).1,2
  • It was first described in 2007, in families with learning differences and a larger-than-usual head size.3
  • Common features reported across published cases include intellectual disability, speech delay, a larger head size (macrocephaly), a prominent forehead and large ears. Some people also have obesity. Seizures (epilepsy) have been reported in a small number of people.4
  • It mostly affects boys. Because the gene is on the X chromosome, boys (who have one X) are usually affected. Girls are affected less often, and usually more mildly.4,5,6
  • It can be inherited or new. In many families the variant is passed down from a mother who has no signs of the condition. In others it appears for the first time in the child (called de novo).4
  • Very few people are known. A 2023 international review described 45 people with BRWD3 variants. Many more are likely undiagnosed or not yet in the medical literature, which is why connecting families matters so much.4
  • Research is under way. A 2023 laboratory study found that the BRWD3 protein helps control another protein, KDM5, that adjusts chemical tags on the packaging around our DNA. Findings like this give scientists something concrete to study.7

This page is for general information only and is not medical advice. There is currently no approved treatment specific to BRWD3-related disorder; therapies such as physical, occupational and speech therapy are used to support each child's development.

  1. OMIM #300659, Intellectual developmental disorder, X-linked 93 (XLID93). omim.org/entry/300659
  2. NCBI Gene: BRWD3, bromodomain and WD repeat domain containing 3 (Xq21.1). ncbi.nlm.nih.gov/gene/254065
  3. Field M, et al. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet 2007. PubMed 17668385
  4. Delanne J, et al. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants. Eur J Med Genet 2023. PubMed 36414205
  5. MedlinePlus Genetics: Inheritance patterns (X-linked inheritance). medlineplus.gov
  6. X-linked intellectual developmental disorder-93 caused by BRWD3 mutation in females: a case report and literature review. Mol Genet Genomic Med 2026. doi.org/10.1002/mgg3.70251
  7. Han D, et al. BRWD3 promotes KDM5 degradation to maintain H3K4 methylation levels. PNAS 2023. PubMed 37722046

Our story

Our son Nicholas is 20 months old. In October 2026, genetic testing told us that a change in his BRWD3 gene is the reason behind his developmental delays.

When we went looking for other families, we couldn't find a single group dedicated to BRWD3. So we started one. We want no family to feel as alone as we did that week, and we want researchers to know that there is a community ready to help them.

Nicholas is curious, sociable with the people he loves, and working hard in therapy every week. He is the reason we're here.

Nicholas's mom and dad, Illinois, USA

For families

Are you a BRWD3 family? Join us.

Whether your child was diagnosed last week or years ago, anywhere in the world, we would love to hear from you. Joining is free and there is no obligation.

  • Meet other parents and caregivers who understand
  • Share what has helped, from therapies to school support
  • Hear about research studies and registries as they open

We never share your details with anyone without your permission.

Email us to say hello:

Email the family group

[email protected]

Join a registry

Registries collect information from families so researchers can learn how a condition affects people over time, which is a key step toward any future treatment. Each one is free for families and asks for your consent first.

Open

GenIDA

An international registry for genetic forms of intellectual disability. Parents fill in an online questionnaire.

genida.eu
Open

GenomeConnect

An NIH-funded registry from ClinGen. Share your genetic test report and health history to help researchers and labs.

genomeconnect.org
Open

RARE-X

A free rare-disease data platform from Global Genes, where caregivers complete surveys about their child's health.

rare-x.org
BRWD3 not listed yet

Simons Searchlight

Studies rare genetic changes linked to neurodevelopmental conditions. BRWD3 is not on its gene list yet; we have asked them to add it.

simonssearchlight.org
For researchers & companies

Let's work together

Are you studying BRWD3, chromatin regulation, X-linked intellectual disability or therapies such as antisense oligonucleotides (ASOs) or drug repurposing? We would love to hear from you.

As a family community, we can help spread the word about your studies, connect you with families who want to take part, and share what matters most to us as parents.

Get in touch

Tell us a little about your work and how families could help.

Email the BRWD3 Foundation

Clinicians: please consider submitting BRWD3 patients to Human Disease Genes and GeneMatcher.

Resources

Trusted places to learn more and find support.