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SYNDROME JOUBERT [1 record]

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Record 1 2019-11-21

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
  • Nervous System
CONT

Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI [magnetic resonance imaging], together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
  • Système nerveux
DEF

Syndrome d'hérédité autosomique récessive [...] caractérisé par une malformation congénitale du tronc cérébral et une agénésie ou une hypoplasie du vermis cérébelleux entraînant des troubles respiratoires, un nystagmus, une hypotonie, une ataxie et un retard du développement moteur.

Spanish

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