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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome.
2 publications have been identified in PubMed for KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Al Ojaimi M (2025). [PMID: 40301961](https://pubmed.ncbi.nlm.nih.gov/40301961/). *Hum Genomics*. [Review / Meta-Analysis]
Cao F (2025). [PMID: 41408900](https://pubmed.ncbi.nlm.nih.gov/41408900/). *Int J Dev Neurosci*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:35 PM UTC
European rare disease database
Common questions about KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome