Joubert syndrome (Q1101694)

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Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones
  • JBTS
  • cerebellooculorenal syndrome
  • Joubert syndrome type A
  • CPD IV
  • Pure Joubert syndrome
  • Classic Joubert syndrome
  • Joubert-Boltshauser syndrome
  • Cerebelloparenchymal disorder IV
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English
Joubert syndrome
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones
  • JBTS
  • cerebellooculorenal syndrome
  • Joubert syndrome type A
  • CPD IV
  • Pure Joubert syndrome
  • Classic Joubert syndrome
  • Joubert-Boltshauser syndrome
  • Cerebelloparenchymal disorder IV

Statements

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Identifiers

MONDO:0018772
 
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