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Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with… Click to show full abstract
Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verbal language, gait abnormalities including ataxia, and an incongruous happy demeanor. The majority of individuals with AS also have seizures and microcephaly. Some individuals with mosaic AS have been reported to have expressive language and milder levels of developmental delay.
Keywords:
atypical presentation;
syndrome intact;
language;
presentation angelman;
angelman syndrome;
expressive language
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!