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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.

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ICD Q93.5ORPHA:48652PMS

Phelan-McDermid Syndrome

Phelan-McDermid syndrome is caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, causing intellectual disability, absent or delayed speech, hypotonia, and autism spectrum features. Diagnosis rates have increased significantly with genetic testing. SHANK3-targeted therapies are under investigation.

This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.

364
Articles
15
Trials
Data refreshed
19 October 2026
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Common Questions

What is Phelan-McDermid Syndrome?

Phelan-McDermid syndrome is caused by deletion or mutation of the SHANK3 gene on chromosome 22q13, causing intellectual disability, absent or delayed speech, hypotonia, and autism spectrum features. Diagnosis rates have increased significantly with genetic testing. SHANK3-targeted therapies are under investigation.

How many clinical trials are available for Phelan-McDermid Syndrome?

RareWays currently indexes 15 clinical trials for Phelan-McDermid Syndrome, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.

Where does the research data for Phelan-McDermid Syndrome come from?

RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.

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