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Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Bilateral tonic-clonic seizure, Mild intellectual disability, Delayed speech and language development |
Muscles | 1 | Low muscle tone (hypotonia) |
Eyes | 1 | Ptosis |
ZMYND11 function has not been fully characterized.
Intellectual disability, autosomal dominant 30 is associated with mutations in the ZMYND11 gene on chromosome 10.
Genetic testing for ZMYND11 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 2 very common features, 2 common features.
No clinical trials have been registered for intellectual disability, autosomal dominant 30.
20 publications have been identified in PubMed for intellectual disability, autosomal dominant 30. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 35% |
Disease patterns and progression | 4 | 24% |
Laboratory research | 3 | 18% |
Research summaries | 2 | 12% |
Other research | 1 | 6% |
Clinical study results | 1 | 6% |
Wang B (2026). [PMID: 41527140](https://pubmed.ncbi.nlm.nih.gov/41527140/). *J Med Case Rep*. [Review / Meta-Analysis]
Musante L (2026). [PMID: 41709284](https://pubmed.ncbi.nlm.nih.gov/41709284/). *Genome Med*. [Basic Science / Preclinical]
Tudorache E (2026). [PMID: 41976806](https://pubmed.ncbi.nlm.nih.gov/41976806/). *J Clin Med*. [Case Report / Case Series]
Yoshimatsu H (2026). [PMID: 41820311](https://pubmed.ncbi.nlm.nih.gov/41820311/). *Hum Genome Var*. [Case Report / Case Series]
Dale RC (2025). [PMID: 39985218](https://pubmed.ncbi.nlm.nih.gov/39985218/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Kawasaki A (2025). [PMID: 39811056](https://pubmed.ncbi.nlm.nih.gov/39811056/). *Radiol Case Rep*. [Case Report / Case Series]
Wei Z (2025). [PMID: 40144891](https://pubmed.ncbi.nlm.nih.gov/40144891/). *Front Genet*. [Case Report / Case Series]
Avci Durmusalioglu E (2025). [PMID: 40459271](https://pubmed.ncbi.nlm.nih.gov/40459271/). *Am J Med Genet A*. [Epidemiology / Natural History]
Fu J (2025). [PMID: 40242083](https://pubmed.ncbi.nlm.nih.gov/40242083/). *Epilepsy Behav Rep*. [Epidemiology / Natural History]
Anastasiou AΜ (2025). [PMID: 40860344](https://pubmed.ncbi.nlm.nih.gov/40860344/). *Front Genet*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:46 AM UTC
Online Mendelian Inheritance in Man
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