Features include always present findings: Strabismus, Unilateral cryptorchidism, Hyperactivity, and Incoordination and others; and very common findings: Downslanted palpebral fissures and Mild intellectual disability. 100 total HPO annotations.

SIN3A function has not been fully characterized.

Chromosome 15q24 deletion syndrome is associated with mutations in the SIN3A gene on chromosome 15.

Genetic testing for SIN3A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for chromosome 15q24 deletion syndrome has been reported in the published literature.

Phenotype severity distribution: 8 always present features, 2 very common features, 14 common features.

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

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

2 publications have been identified in PubMed for chromosome 15q24 deletion syndrome. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).

Recent Publications

• Goh S (2026). [PMID: 41094176](https://pubmed.ncbi.nlm.nih.gov/41094176/). *Eur J Hum Genet*. [Review / Meta-Analysis]

• Previdi A (2024). [PMID: 39012202](https://pubmed.ncbi.nlm.nih.gov/39012202/). *Clinical genetics*. [Diagnostic / Biomarker]