Developmental delay, hypotonia, and impaired language: genes and variants
Developmental delay, hypotonia, and impaired language is linked to 1 analyzed protein (FBXW7). 4 DNA variants are known to cause it; 12 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 Developmental delay, hypotonia, and impaired language
FBXW7: F-box/WD repeat-containing protein 7
4 disease-causing and 12 uncertain variants in FBXW7 are linked to Developmental delay, hypotonia, and impaired language.
Known disease-causing variants in Developmental delay, hypotonia, and impaired language
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FBXW7 R689W | 689 | Disease-causing (★★) | |
| FBXW7 R674W | 674 | Disease-causing (★★) | |
| FBXW7 T439A | 439 | WD 2 | Disease-causing (★) |
| FBXW7 R689Q | 689 | Disease-causing |
Diseases related to Developmental delay, hypotonia, and impaired language
- Ebv-positive nodal t- and nk-cell lymphoma, also linked to FBXW7
Frequently asked questions
Which genes are linked to Developmental delay, hypotonia, and impaired language?
In CATVariant, Developmental delay, hypotonia, and impaired language is linked to 1 analyzed protein: FBXW7 (F-box/WD repeat-containing protein 7).
How many genetic variants are linked to Developmental delay, hypotonia, and impaired language?
24 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in Developmental delay, hypotonia, and impaired language 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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