Disease Directory Phelan-McDermid syndrome due to 22q13.3 deletion
Rare Disease

Phelan-McDermid syndrome due to 22q13.3 deletion

Type

Etiological subtype

Gene

SHANK3

About Phelan-McDermid syndrome due to 22q13.3 deletion

Phelan-McDermid syndrome due to 22q13.3 deletion is a rare disease catalogued by Orphanet (ORPHA:662169). It is associated with the SHANK3 gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Phelan-McDermid syndrome due to 22q13.3 deletion trials.

Search ClinicalTrials.gov for "Phelan-McDermid syndrome due to 22q13.3 deletion" or filter by Orphanet code ORPHA:662169 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:662169)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Phelan-McDermid syndrome due to 22q13.3 deletion trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Phelan-McDermid syndrome due to 22q13.3 deletion. Updated daily.