7 Key Facts About Angelman Syndrome You Need to Know

Angelman syndrome is a multifaceted genetic disorder mainly impacting the nervous system, marked by delayed development, severe speech impairment, and intellectual disability. Additionally, most affected children experience epilepsy and microcephaly.
UBE3A is an E3 ubiquitin ligase with genome-wide impact on neurodevelopmental disease. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome.

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More information about genes and diseases could be found in the Rare Disease Data Center (RDDC)
https://rddc.tsinghua-gd.org/

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