BCL11B encodes BCL11 transcription factor B (894 aa). Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Highest expression in Skin Sun Exposed Lower leg (22.3 TPM) and Skin Not Sun Exposed Suprapubic (22.2 TPM).

Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities is caused by mutations in the BCL11B gene on chromosome 14.

The BCL11B protein participates in Transcription of NOTCH2NLA gene pathway.

BCL11B is classified as a druggable target (Clinically Actionable category) with score 0.0.

Genetic testing for BCL11B is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 2 very common features, 13 common features.

No clinical trials have been registered for intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities.

5 publications have been identified in PubMed for intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities. Research spans Case Report / Case Series (60%), Other (20%), and Review / Meta-Analysis (20%).

Recent Publications

• Liu Y (2026). [PMID: 41665692](https://pubmed.ncbi.nlm.nih.gov/41665692/). *Neurogenetics*. [Case Report / Case Series]

• Zhang Y (2026). [PMID: 41668056](https://pubmed.ncbi.nlm.nih.gov/41668056/). *BMC Oral Health*. [Case Report / Case Series]

• Veronese A (2025). [PMID: 39821785](https://pubmed.ncbi.nlm.nih.gov/39821785/). *Neuropediatrics*. [Other]

• Wang H (2025). [PMID: 40124112](https://pubmed.ncbi.nlm.nih.gov/40124112/). *IBRO Neurosci Rep*. [Review / Meta-Analysis]

• Crisanto-López IE (2024). [PMID: 39570871](https://pubmed.ncbi.nlm.nih.gov/39570871/). *Rev Med Inst Mex Seguro Soc*. [Case Report / Case Series]