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A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
Biomarker and diagnostic research for 3p25.3 microdeletion syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 3p25.3 microdeletion syndrome.
17 publications have been identified in PubMed for 3p25.3 microdeletion syndrome. Kisho has analyzed 13 by research type. Research spans Case Report / Case Series (46%), Diagnostic / Biomarker (15%), and Epidemiology / Natural History (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 46% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:23 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Testing and diagnosis research
2 |
15% |
Disease patterns and progression | 2 | 15% |
Research summaries | 1 | 8% |
Clinical study results | 1 | 8% |
Laboratory research | 1 | 8% |
Pichon E (2026). [PMID: 41025404](https://pubmed.ncbi.nlm.nih.gov/41025404/). *Movement disorders clinical practice*. [Case Report / Case Series]
Gráczer É (2026). [PMID: 41489609](https://pubmed.ncbi.nlm.nih.gov/41489609/). *FASEB journal : official publication of the Federation of American Societies for Experimental Biology*. [Case Report / Case Series]
Querido A (2026). [PMID: 41590970](https://pubmed.ncbi.nlm.nih.gov/41590970/). *Sports (Basel, Switzerland)*. [Case Report / Case Series]
Deng S (2026). [PMID: 42122256](https://pubmed.ncbi.nlm.nih.gov/42122256/). *Cancers (Basel)*. [Diagnostic / Biomarker]
Pehlivan D (2025). [PMID: 39838601](https://pubmed.ncbi.nlm.nih.gov/39838601/). *Annals of clinical and translational neurology*. [Diagnostic / Biomarker]
Oguri S (2025). [PMID: 40517887](https://pubmed.ncbi.nlm.nih.gov/40517887/). *European journal of medical genetics*. [Case Report / Case Series]
Böttcher AK (2025). [PMID: 39841745](https://pubmed.ncbi.nlm.nih.gov/39841745/). *Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo*. [Review / Meta-Analysis]
Deng Y (2025). [PMID: 41147347](https://pubmed.ncbi.nlm.nih.gov/41147347/). *Birth defects research*. [Clinical Trial Publication]
Danon JC (2025). [PMID: 39648079](https://pubmed.ncbi.nlm.nih.gov/39648079/). *Disability and health journal*. [Basic Science / Preclinical]
Kocagil S (2024). [PMID: 38856647](https://pubmed.ncbi.nlm.nih.gov/38856647/). *Clinical dysmorphology*. [Case Report / Case Series]
AI-curated news mentioning 3p25.3 microdeletion syndrome
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.