Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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.
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All Diseases > SYNGAP1-related intellectual disability
SYNGAP1-related intellectual disability
Alternative Names: SYNGAP1-ID
Disease Category: Developmental Synaptopathies
Intellectual developmental disorder, autosomal dominant 5 (also known as SYNGAP1-related non-syndromic intellectual disability) is a condition that primarily affects the central nervous system. It is characterized by moderate to severe intellectual disability. Some affected people may also experience seizures and/or autism spectrum disorder. This condition is caused by changes in the SYNGAP1 gene. Almost all reported cases are due to de novo genetic changes; however, the condition can be passed down to future generations in an autosomal dominant manner.
Research groups studying this disease
Developmental Synaptopathies
Developmental Synaptopathies Consortium (DSC)