Dictionary of Human Evolution and Biology

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Angelman Syndrome (AS)

Uncommon autosomal dominant, heterogenous condition characterized by seizures, mental impairment and growth retardation, a protruding tongue, floppy muscle tone, large jaw, an inability to talk, and excessive and inappropriate laughter. AS is caused by a small deletion in chromosome 15, inherited maternally. The ubiquitin ligase gene (UBE3A) has been implicated. Exhibits evidence for genomic imprinting. Aka happy puppet syndrome, Prader-Willi/Angelman syndrome.

See Prader-Willi syndrome.

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