Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15
Alias:
Upd(15)pat
Basic Information
Medical Symptom
Gene & Mutation
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References
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15, also known as upd(15)pat, is related to angelman syndrome and paternal uniparental disomy. An important gene associated with Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 is UBE3A (Ubiquitin Protein Ligase E3A). Affiliated tissues include tongue and skin, and related phenotypes are intellectual disability and seizure
Related ID:
Basic Information
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MALACARDS
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Unknown
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1
15
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