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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Angelman Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Angelman Syndrome
Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Angelman Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Angelman Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Imprinting Disorders > Angelman Syndrome

Preferred term

Angelman Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Children, Puppet
  • Happy Puppet Syndrome
  • Puppet Children
  • Syndrome, Happy Puppet

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)

History note

  • 93

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URI

http://www.yso.fi/onto/mesh/D017204

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