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DeCS
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Descriptor English:
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Angelman Syndrome
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Descriptor Spanish:
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Síndrome de Angelman
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Descriptor Portuguese:
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Síndrome de Angelman
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Synonyms English:
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Children, Puppet
Happy Puppet Syndrome
Puppet Children
Syndrome, Angelman
Syndrome, Happy Puppet
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Tree Number:
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C10.228.662.075
C16.131.077.095
C16.131.260.040
C16.320.180.040
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Definition English:
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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) |
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See Related English:
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Intellectual Disability
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History Note English:
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93
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Allowable Qualifiers English:
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Record Number:
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30854
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Unique Identifier:
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D017204
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Occurrence in VHL:
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Similar:
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DeCS
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