SYNGAP1-related non-syndromic intellectual disability

Disease Overview

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 that is usually apparent in the first few years of life. Some affected people may also experience seizures and/or autism spectrum disorder. This condition is caused by changes (mutations) in the SYNGAP1 gene. Almost all reported cases are due to de novo mutations; however, the condition can be passed down to future generations in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.[9085][9086][9087]

Synonyms

• MRD5
• Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia and Autism
• SYNGAP1-related NSID
• SYNGAP1 syndrome
• Autosomal dominant intellectual disability 5