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16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 16q24.3 microdeletion syndrome.
5 publications have been identified in PubMed for 16q24.3 microdeletion syndrome. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).
Li M (2026). [PMID: 41710014](https://pubmed.ncbi.nlm.nih.gov/41710014/). *Frontiers in pediatrics*. [Review / Meta-Analysis]
Iwata-Otsubo A (2025). [PMID: 40004465](https://pubmed.ncbi.nlm.nih.gov/40004465/). *Genes*. [Basic Science / Preclinical]
Yang HK (2025). [PMID: 40714249](https://pubmed.ncbi.nlm.nih.gov/40714249/). *Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus*. [Case Report / Case Series]
Li MM (2025). [PMID: 40518161](https://pubmed.ncbi.nlm.nih.gov/40518161/). *Zhonghua er ke za zhi = Chinese journal of pediatrics*. [Case Report / Case Series]
Mash Y (2024). [PMID: 39363392](https://pubmed.ncbi.nlm.nih.gov/39363392/). *Prenatal diagnosis*. [Epidemiology / Natural History]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:14 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning 16q24.3 microdeletion syndrome
Updated Feb 20, 2026
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