About: Boucher-Neuhäuser syndrome     Goto   Sponge   NotDistinct   Permalink

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Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, , and hypogonadism.

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  • Boucher-Neuhäuser syndrome (en)
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  • Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, , and hypogonadism. (en)
name
  • Boucher-Neuhäuser syndrome (en)
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/Autorecessive.svg
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specialty
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deaths
  • - (en)
onset
  • Late childhood-adolescence-early adulthood (en)
symptoms
  • Cerebellar ataxia, hypogonadism, and choroidal dystrophy (en)
causes
duration
  • Lifelong (en)
frequency
  • very rare, only 22 cases have been described in medical literature (en)
image size
synonyms
  • Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, Ataxia-hypogonadism-choroidal dystrophy syndrome. (en)
has abstract
  • Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, , and hypogonadism. (en)
prevention
  • None (en)
prognosis
  • Medium (en)
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alias
  • (en)
  • Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, Ataxia-hypogonadism-choroidal dystrophy syndrome. (en)
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