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Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.
Features include always present findings: Mild intellectual disability and Intellectual disability; and very common findings: Macrotia. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Delayed speech and language development, Mild intellectual disability, Intellectual disability |
Head and neck | 2 | Long face, Macrocephaly |
Muscles | 1 | Low muscle tone (hypotonia) |
BRWD3 encodes bromodomain and WD repeat domain containing 3 (1,802 aa). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape Highest expression in Cells EBV-transformed lymphocytes (11.9 TPM) and Ovary (10.1 TPM).
Intellectual disability, X-linked 93 is associated with mutations in the BRWD3 gene on chromosome X.
BRWD3 is classified as a druggable target with score 0.0.
Genetic testing for BRWD3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for intellectual disability, X-linked 93 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 1 very common feature, 2 common features.
No clinical trials have been registered for intellectual disability, X-linked 93.
10 publications have been identified in PubMed for intellectual disability, X-linked 93. Research spans Diagnostic / Biomarker (30%), Epidemiology / Natural History (30%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Testing and diagnosis research | 3 | 30% |
Disease patterns and progression | 3 | 30% |
Laboratory research | 2 | 20% |
Patient case studies | 1 | 10% |
Clinical study results | 1 | 10% |
Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes (Basel)*. [Epidemiology / Natural History]
Lubbers K (2026). [PMID: 39395123](https://pubmed.ncbi.nlm.nih.gov/39395123/). *J Autism Dev Disord*. [Epidemiology / Natural History]
Lee B (2025). [PMID: 40782865](https://pubmed.ncbi.nlm.nih.gov/40782865/). *Int J Biol Macromol*. [Basic Science / Preclinical]
Yska HAF (2025). [PMID: 39777696](https://pubmed.ncbi.nlm.nih.gov/39777696/). *J Inherit Metab Dis*. [Epidemiology / Natural History]
Likhitweerawong N (2025). [PMID: 41298566](https://pubmed.ncbi.nlm.nih.gov/41298566/). *Sci Rep*. [Diagnostic / Biomarker]
Yıldız N (2024). [PMID: 39003968](https://pubmed.ncbi.nlm.nih.gov/39003968/). *Epilepsy Res*. [Diagnostic / Biomarker]
Trajkova S (2024). [PMID: 38751117](https://pubmed.ncbi.nlm.nih.gov/38751117/). *HGG Adv*. [Diagnostic / Biomarker]
Peri F (2024). [PMID: 39002354](https://pubmed.ncbi.nlm.nih.gov/39002354/). *Pediatr Neurol*. [Clinical Trial Publication]
Vega-Hanna L (2024). [PMID: 39795538](https://pubmed.ncbi.nlm.nih.gov/39795538/). *Diagnostics (Basel)*. [Basic Science / Preclinical]
Spreghini MR (2024). [PMID: 39408308](https://pubmed.ncbi.nlm.nih.gov/39408308/). *Nutrients*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC
Online Mendelian Inheritance in Man