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Angelman Syndrome

More information in Books or onNLM PubMed
Definition: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)     
See Also Intellectual Disability
Other names Puppet Children; Happy Puppet Syndrome; Syndrome, Happy Puppet; Syndrome, Angelman; Children, Puppet
 
SubstanceCAS Registry & nameCategoriesSource
Happy puppet syndrome (formerly)  0   *Angelman Syndrome.
UBE3A protein, human  0   *Ubiquitin-Protein Ligases Angelman Syndrome.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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