Angelman syndrome (AS, MIM ) - facial phenotyping angelman

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Angelman syndrome - Genetics Home Reference - NIH facial phenotyping angelman


Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormality of chromosome 15qCited by:

Adults with Angelman syndrome have distinctive facial features that may be described as " coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with .

Feb 01,  · Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of betterbasket.info by:

Mar 05,  · This process is known as next-generation phenotyping, or NGP. and FDNA to evaluate SYNGAP1 gene variants related to autism spectrum disorders such as Fragile X and Angelman syndrome. The project aims to use facial analysis and other NGP approaches to help clinicians with early diagnosis and personalized intervention.