Angelman syndrome - Genetics Home Reference - NIH - Facial phenotyping angelman

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In some cases, individuals with. Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually.

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By Malakree - 06:21
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding absent speech, ataxia, sociable affect, and dysmorphic facial features.
By Zololar - 09:31
Identifying facial phenotypes of genetic disorders using deep learning . model was trained on Angelman syndrome images as positive.
By Bakazahn - 00:20
Some children with Angelman syndrome may have distinctive facial features but most . Some individuals present with an Angelman syndrome-like phenotype.
By Kajidal - 20:46
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, inability to speak, ataxia, dysmorphic facial features.
By Brarg - 16:11
The facial features are subtle and include a wide, smiling mouth, prominent chin, and In recent years clearer delineation of the clinical phenotype of Angelman.

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