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Prader-Willi Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • 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) An association of DIABETES MELLITUS with Prader-Willi Syndrome.

Etiquetas alternativas

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

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-K6WT37LH-3

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