Global developmental delay with or without impaired intellectual development: genes and variants
Global developmental delay with or without impaired intellectual development is linked to 1 analyzed protein (CUX1). 1 DNA variants are known to cause it; 44 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 Global developmental delay with or without impaired intellectual development
CUX1: Homeobox protein cut-like 1
It regulates transcription and chromatin-associated processes involved in cell differentiation, proliferation, and neuronal development. Haploinsufficiency can cause neurodevelopmental impairment, while somatic loss is common in myeloid malignancies and often marks adverse-risk disease.
1 disease-causing and 44 uncertain variants in CUX1 are linked to Global developmental delay with or without impaired intellectual development.
Known disease-causing variants in Global developmental delay with or without impaired intellectual development
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CUX1 R254S | 254 | Coiled coil | Disease-causing (★) |
Diseases related to Global developmental delay with or without impaired intellectual development
- Myelodysplastic syndrome, also linked to CUX1
Frequently asked questions
Which genes are linked to Global developmental delay with or without impaired intellectual development?
In CATVariant, Global developmental delay with or without impaired intellectual development is linked to 1 analyzed protein: CUX1 (Homeobox protein cut-like 1).
How many genetic variants are linked to Global developmental delay with or without impaired intellectual development?
63 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 44 are of uncertain significance or have conflicting reports.
Which uncertain variants in Global developmental delay with or without impaired intellectual development 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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