EEF1A2 encodes eukaryotic translation elongation factor 1 alpha 2 (463 aa). Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Highest expression in Muscle Skeletal (2,328 TPM) and Brain Cerebellar Hemisphere (972.2 TPM).

Intellectual disability, autosomal dominant 38 is associated with mutations in the EEF1A2 gene on chromosome 20.

EEF1A2 is classified as a druggable target with score 26.1.

Genetic testing for EEF1A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 38 has been reported in the published literature.

Phenotype severity distribution: 14 always present features, 13 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 38.

16 publications have been identified in PubMed for intellectual disability, autosomal dominant 38. Research spans Review / Meta-Analysis (40%), Epidemiology / Natural History (33%), and Case Report / Case Series (20%).

Recent Publications

• Ates K (2026). [PMID: 42204957](https://pubmed.ncbi.nlm.nih.gov/42204957/). *Dev Neurobiol*. [Review / Meta-Analysis]

• Wang Z (2026). [PMID: 41916888](https://pubmed.ncbi.nlm.nih.gov/41916888/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Review / Meta-Analysis]

• Li M (2026). [PMID: 41710014](https://pubmed.ncbi.nlm.nih.gov/41710014/). *Frontiers in pediatrics*. [Review / Meta-Analysis]

• van der Leij M (2026). [PMID: 41680088](https://pubmed.ncbi.nlm.nih.gov/41680088/). *American journal of medical genetics. Part A*. [Review / Meta-Analysis]

• Hossain WA (2025). [PMID: 39941075](https://pubmed.ncbi.nlm.nih.gov/39941075/). *International journal of molecular sciences*. [Review / Meta-Analysis]

• Pizzol A (2025). [PMID: 39494522](https://pubmed.ncbi.nlm.nih.gov/39494522/). *American journal of medical genetics. Part A*. [Epidemiology / Natural History]

• Gatsis A (2025). [PMID: 39911174](https://pubmed.ncbi.nlm.nih.gov/39911174/). *Molecular syndromology*. [Case Report / Case Series]

• Kong JY (2025). [PMID: 40050103](https://pubmed.ncbi.nlm.nih.gov/40050103/). *[Zhonghua yan ke za zhi] Chinese journal of ophthalmology*. [Case Report / Case Series]

• Osman MF (2024). [PMID: 39882213](https://pubmed.ncbi.nlm.nih.gov/39882213/). *Frontiers in pediatrics*. [Epidemiology / Natural History]

• Majjigudda RA (2024). [PMID: 39600756](https://pubmed.ncbi.nlm.nih.gov/39600756/). *Cureus*. [Case Report / Case Series]