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Angelman Syndrome MeSH Descriptor Data 2023


MeSH Heading
Angelman Syndrome
Tree Number(s)
C10.228.662.075
C16.131.077.095
C16.131.260.040
C16.320.180.040
Unique ID
D017204
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D017204
Scope Note
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)
Entry Term(s)
Happy Puppet Syndrome
Puppet Children
Previous Indexing
Ataxia (1972-1992)
Mental Disorders (1967-1992)
Movement Disorders (1967-1992)
See Also
Intellectual Disability
Public MeSH Note
93
History Note
93
Date Established
1993/01/01
Date of Entry
1992/05/07
Revision Date
2013/07/08
Angelman Syndrome Preferred
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