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SYNGAP1-related intellectual disability - Genetics Home Reference

SYNGAP1-related intellectual disability - Genetics Home Reference

05/10/2016 11:30 PM EDT

Source: National Library of Medicine - NIH
Related MedlinePlus Pages: Autism Spectrum DisorderDevelopmental DisabilitiesEpilepsy

Genetics Home Reference, Your Guide to Understanding Genetic Conditions

SYNGAP1-related intellectual disability

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 disorders, which are conditions characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have an autism spectrum disorder.

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