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14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 14q12 microdeletion syndrome.
3 publications have been identified in PubMed for 14q12 microdeletion syndrome. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).
Pedersen SV (2026). [PMID: 41442323](https://pubmed.ncbi.nlm.nih.gov/41442323/). *Acta paediatrica (Oslo, Norway : 1992)*. [Review / Meta-Analysis]
Andersen RE (2024). [PMID: 39060644](https://pubmed.ncbi.nlm.nih.gov/39060644/). *Human genetics*. [Basic Science / Preclinical]
Andersen RE (2024). [PMID: 38946951](https://pubmed.ncbi.nlm.nih.gov/38946951/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning 14q12 microdeletion syndrome
Updated Feb 19, 2026
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