Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities: genes and variants
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities is linked to 1 analyzed protein (BCL11B). 3 DNA variants are known to cause it; 19 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
BCL11B: B-cell lymphoma/leukemia 11B
It regulates transcriptional programs required for T-cell development, craniofacial development, and nervous-system maturation. Heterozygous pathogenic variants can cause a syndromic neurodevelopmental disorder with immunologic abnormalities and variable craniofacial features.
3 disease-causing and 19 uncertain variants in BCL11B are linked to Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities.
Known disease-causing variants in Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BCL11B N807K | 807 | C2H2-type 4 | Disease-causing (★★) |
| BCL11B K838R | 838 | C2H2-type 5 | Disease-causing (★) |
| BCL11B R841H | 841 | C2H2-type 5 | Disease-causing (★) |
Diseases related to Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
- Combined immunodeficiency, also linked to BCL11B
Frequently asked questions
Which genes are linked to Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities?
In CATVariant, Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities is linked to 1 analyzed protein: BCL11B (B-cell lymphoma/leukemia 11B).
How many genetic variants are linked to Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities?
31 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 19 are of uncertain significance or have conflicting reports.
Which uncertain variants in Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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