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Features include very common findings: Intellectual disability, Spasticity, Hypertonia, and Muscle stiffness (rigidity) and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Intellectual disability, Spasticity, Muscle stiffness (rigidity) |
Phenotype severity distribution: 7 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked spasticity-intellectual disability-epilepsy syndrome.
7 publications have been identified in PubMed for X-linked spasticity-intellectual disability-epilepsy syndrome. Research spans Case Report / Case Series (71%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (14%).
Del Regno C (2026). [PMID: 41074240](https://pubmed.ncbi.nlm.nih.gov/41074240/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Bruschi F (2026). [PMID: 41144879](https://pubmed.ncbi.nlm.nih.gov/41144879/). *Mov Disord*. [Basic Science / Preclinical]
Xue S (2025). [PMID: 41240171](https://pubmed.ncbi.nlm.nih.gov/41240171/). *Mol Biol Rep*. [Case Report / Case Series]
Raynor A (2025). [PMID: 41131679](https://pubmed.ncbi.nlm.nih.gov/41131679/). *J Inherit Metab Dis*. [Case Report / Case Series]
Katata Y (2025). [PMID: 40873128](https://pubmed.ncbi.nlm.nih.gov/40873128/). *Clin Genet*. [Case Report / Case Series]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked spasticity-intellectual disability-epilepsy syndrome
1 |
Muscle stiffness |
St Pierre DG (2025). [PMID: 40170533](https://pubmed.ncbi.nlm.nih.gov/40170533/). *J Child Neurol*. [Case Report / Case Series]
Kavanaugh BC (2024). [PMID: 39237363](https://pubmed.ncbi.nlm.nih.gov/39237363/). *J Med Genet*. [Epidemiology / Natural History]