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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email

All Diseases > Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS)

Alternative Names: 22q13 Deletion syndrome; SHANK3 deletion/mutation

Disease Category: Developmental Synaptopathies

Phelan-McDermid syndrome (PMS) is caused by a loss of a piece of chromosome 22 near the end of the chromosome at a location designated q13.3. The symptoms of PMS can vary from person to person but it is typically characterized by low muscle tone, global developmental delay/intellectual disability, motor skills delay, delayed or absent speech and autism spectrum disorder (ASD).

Research groups studying this disease

Developmental Synaptopathies
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Developmental Synaptopathies Consortium (DSC)

Aims to improve quality of life of those affected by Phelan-McDermid syndrome (PMS) by providing support, accelerating research, and raising awareness.