X-linked intellectual disability-hypotonia-movement disorder syndrome: genes and variants
Explore variant evidence for X-linked intellectual disability-hypotonia-movement disorder syndrome across 1 analyzed protein (DDX3X). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to X-linked intellectual disability-hypotonia-movement disorder syndrome
DDX3X: ATP-dependent RNA helicase DDX3X
An ATP-dependent RNA helicase involved in RNA processing and translation. Pathogenic variants are an established cause of neurodevelopmental disorders, particularly in females.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in DDX3X have source records linked to X-linked intellectual disability-hypotonia-movement disorder syndrome. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to X-linked intellectual disability-hypotonia-movement disorder syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DDX3X R475C | 475 | Helicase C-terminal | Pathogenic / likely pathogenic (★★) |
Diseases related to X-linked intellectual disability-hypotonia-movement disorder syndrome
- Rare genetic intellectual disability, also linked to DDX3X
- Medulloblastoma, also linked to DDX3X
- Ebv-positive nodal t- and nk-cell lymphoma, also linked to DDX3X
Frequently asked questions
Which genes have records linked to X-linked intellectual disability-hypotonia-movement disorder syndrome?
This view contains 1 analyzed proteins: DDX3X. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 1 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 66 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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