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Concept information

Preferred term

Prader-Willi Syndrome  

Type

  • Topical Descriptor

Entry terms

  • Labhart Willi Prader Fanconi Syndrome
  • Labhart-Willi-Prader-Fanconi Syndrome
  • Labhart Willi Syndrome
  • Labhart-Willi Syndrome
  • Prader Labhart Willi Syndrome
  • Prader-Labhart-Willi Syndrome
  • Syndrome, Labhart-Willi
  • Syndrome, Labhart-Willi-Prader-Fanconi
  • Syndrome, Prader-Labhart-Willi
  • Syndrome, Willi-Prader
  • Willi Prader Syndrome
  • Willi-Prader Syndrome

Scope note

  • An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

History note

  • 1977

In other languages

URI

http://www.yso.fi/onto/mesh/D011218

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