Angelman syndrome

(ān′jĕl-măn, ăn′)

[Harry Angelman, Brit. pediatrician, 1915-1996]
A rare inherited disorder marked by cognitive and speech impairments, developmental delay, impaired (ataxic) ambulation and balance, seizures, sleep disturbances, and microcephaly. Many affected children have a happy disposition and are fascinated by water. It is caused by a loss of function of the UBE3A gene, which is usually found on chromosome 15.
SEE: Prader-Willi syndrome

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