Features include always present findings: Intellectual disability, Microcephaly, and Global developmental delay; and common findings: Hearing loss (hearing impairment), Brachydactyly, Sleep disturbance, and Low muscle tone (hypotonia) and others. 24 total HPO annotations.

TELO2 function has not been fully characterized.

TELO2-related intellectual disability-neurodevelopmental disorder is caused by mutations in the TELO2 gene on chromosome 16.

Genetic testing for TELO2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for TELO2-related intellectual disability-neurodevelopmental disorder.

5 publications have been identified in PubMed for TELO2-related intellectual disability-neurodevelopmental disorder. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Epidemiology / Natural History (20%).

Recent Publications

• Odabassian M (2026). [PMID: 41553761](https://pubmed.ncbi.nlm.nih.gov/41553761/). *Epileptic disorders : international epilepsy journal with videotape*. [Case Report / Case Series]

• Li P (2025). [PMID: 41645377](https://pubmed.ncbi.nlm.nih.gov/41645377/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Review / Meta-Analysis]

• Liu Y (2025). [PMID: 40413309](https://pubmed.ncbi.nlm.nih.gov/40413309/). *Molecular psychiatry*. [Epidemiology / Natural History]

• De Falco A (2025). [PMID: 39704248](https://pubmed.ncbi.nlm.nih.gov/39704248/). *American journal of medical genetics. Part A*. [Case Report / Case Series]