Angelman syndrome

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A neurogenetic disorder characterized by severe developmental delay, absence of speech, seizures, a jerky puppet-like gait (see ataxia), and paroxysmal laughter (giving it the alternative name happy puppet syndrome). Affected children commonly have cranial and facial abnormalities, such as a small or flattened head. Angelman syndrome is a prototype of genomic imprinting: a deletion on maternal chromosome 15 is the cause in a majority of cases. H. Angelman (1915–96), British paediatrician

Subjects: Medicine and Health.

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