SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.
Inheritance Pattern
Autosomal dominant
Other Names
Mental retardation, autosomal dominant 5; MRD5
Related Genetics Topics
- SYNGAP1 — MedlinePlus Genetics
Identifiers
- GTR: C2675473
- MeSH: D008607
- OMIM: 612621
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
