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Biomarker and diagnostic research for Phelan-McDermid syndrome due to 22q13.3 deletion has been reported in the published literature.
No clinical trials have been registered for Phelan-McDermid syndrome due to 22q13.3 deletion.
14 publications have been identified in PubMed for Phelan-McDermid syndrome due to 22q13.3 deletion. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (29%), and Epidemiology / Natural History (21%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 6 | 43% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:33 PM UTC
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European rare disease database
Common questions about Phelan-McDermid syndrome due to 22q13.3 deletion
Patient case studies |
4 |
29% |
Disease patterns and progression | 3 | 21% |
Testing and diagnosis research | 1 | 7% |
Sandoni L (2026). [PMID: 42192297](https://pubmed.ncbi.nlm.nih.gov/42192297/). *J Neurodev Disord*. [Epidemiology / Natural History]
Colnaghi L (2026). [PMID: 41551253](https://pubmed.ncbi.nlm.nih.gov/41551253/). *MethodsX*. [Case Report / Case Series]
Payne E (2026). [PMID: 41751586](https://pubmed.ncbi.nlm.nih.gov/41751586/). *Genes*. [Diagnostic / Biomarker]
Boccuto L (2025). [PMID: 41157259](https://pubmed.ncbi.nlm.nih.gov/41157259/). *Life (Basel, Switzerland)*. [Case Report / Case Series]
Chorin O (2025). [PMID: 40102980](https://pubmed.ncbi.nlm.nih.gov/40102980/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]
Lin S (2025). [PMID: 40922359](https://pubmed.ncbi.nlm.nih.gov/40922359/). *Medicine*. [Case Report / Case Series]
Moses RG (2025). [PMID: 40519070](https://pubmed.ncbi.nlm.nih.gov/40519070/). *American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics*. [Basic Science / Preclinical]
Nevado J (2025). [PMID: 40429797](https://pubmed.ncbi.nlm.nih.gov/40429797/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Chen CP (2025). [PMID: 40049821](https://pubmed.ncbi.nlm.nih.gov/40049821/). *Taiwanese journal of obstetrics & gynecology*. [Case Report / Case Series]
Lin V (2025). [PMID: 40874391](https://pubmed.ncbi.nlm.nih.gov/40874391/). *Autism research : official journal of the International Society for Autism Research*. [Basic Science / Preclinical]