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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome.
4 publications have been identified in PubMed for SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).
Abarca-Barriga HH (2025). [PMID: 40251579](https://pubmed.ncbi.nlm.nih.gov/40251579/). *BMC Med Genomics*. [Epidemiology / Natural History]
Al Ojaimi M (2025). [PMID: 40301961](https://pubmed.ncbi.nlm.nih.gov/40301961/). *Hum Genomics*. [Review / Meta-Analysis]
Rezazadeh S (2025). [PMID: 40469903](https://pubmed.ncbi.nlm.nih.gov/40469903/). *Front Mol Neurosci*. [Review / Meta-Analysis]
Romano F (2025). [PMID: 39907171](https://pubmed.ncbi.nlm.nih.gov/39907171/). *Birth Defects Res*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:45 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome