TTI2 function has not been fully characterized.

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is associated with mutations in the TTI2 gene on chromosome 8.

Genetic testing for TTI2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome has been reported in the published literature.

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

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

No clinical trials have been registered for severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome.

12 publications have been identified in PubMed for severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome. Research spans Case Report / Case Series (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

• Yokoi F (2026). [PMID: 40407976](https://pubmed.ncbi.nlm.nih.gov/40407976/). *GeroScience*. [Basic Science / Preclinical]

• Foresti O (2026). [PMID: 42115085](https://pubmed.ncbi.nlm.nih.gov/42115085/). *Trends Mol Med*. [Review / Meta-Analysis]

• Viudes CP (2026). [PMID: 41700350](https://pubmed.ncbi.nlm.nih.gov/41700350/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]

• Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clinical genetics*. [Epidemiology / Natural History]

• Cali E (2025). [PMID: 39275948](https://pubmed.ncbi.nlm.nih.gov/39275948/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Case Report / Case Series]

• Saba N (2025). [PMID: 41099992](https://pubmed.ncbi.nlm.nih.gov/41099992/). *Biochemical genetics*. [Diagnostic / Biomarker]

• Akyüz A (2025). [PMID: 40781175](https://pubmed.ncbi.nlm.nih.gov/40781175/). *European journal of pediatrics*. [Case Report / Case Series]

• Thanuja B (2025). [PMID: 40088508](https://pubmed.ncbi.nlm.nih.gov/40088508/). *Pediatric neurology*. [Clinical Trial Publication]

• Skocy H (2025). [PMID: 40687628](https://pubmed.ncbi.nlm.nih.gov/40687628/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]

• Dolu MH (2024). [PMID: 39051604](https://pubmed.ncbi.nlm.nih.gov/39051604/). *Journal of child neurology*. [Diagnostic / Biomarker]