TUSC3 function has not been fully characterized.

Intellectual disability, autosomal recessive 7 is associated with mutations in the TUSC3 gene on chromosome 8.

Genetic testing for TUSC3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 7 has been reported in the published literature.

Phenotype severity distribution: 3 always present features.

No clinical trials have been registered for intellectual disability, autosomal recessive 7.

40 publications have been identified in PubMed for intellectual disability, autosomal recessive 7. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (25%), and Diagnostic / Biomarker (13%).

Recent Publications

• Zhu L (2026). [PMID: 41721346](https://pubmed.ncbi.nlm.nih.gov/41721346/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Yavas C (2026). [PMID: 41604004](https://pubmed.ncbi.nlm.nih.gov/41604004/). *Molecular biology reports*. [Case Report / Case Series]

• Bin Hadyan MF (2026). [PMID: 41736722](https://pubmed.ncbi.nlm.nih.gov/41736722/). *Molecular genetics and metabolism reports*. [Basic Science / Preclinical]

• Vinci M (2026). [PMID: 41207646](https://pubmed.ncbi.nlm.nih.gov/41207646/). *Gene*. [Diagnostic / Biomarker]

• VanSickle EA (2026). [PMID: 41410504](https://pubmed.ncbi.nlm.nih.gov/41410504/). *Am J Med Genet A*. [Review / Meta-Analysis]

• Ting SL (2026). [PMID: 41968386](https://pubmed.ncbi.nlm.nih.gov/41968386/). *Am J Med Genet A*. [Diagnostic / Biomarker]

• Quelhas D (2026). [PMID: 41554664](https://pubmed.ncbi.nlm.nih.gov/41554664/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]

• Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *Journal of molecular medicine (Berlin, Germany)*. [Diagnostic / Biomarker]

• Kuzucu FN (2025). [PMID: 40293582](https://pubmed.ncbi.nlm.nih.gov/40293582/). *Metabolic brain disease*. [Diagnostic / Biomarker]

• Thanuja B (2025). [PMID: 40088508](https://pubmed.ncbi.nlm.nih.gov/40088508/). *Pediatric neurology*. [Basic Science / Preclinical]