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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-01-2010
Symbol JBTS1
Location 9q34.3
HGNC id 21089
Name Joubert syndrome 1
Other name(s)
  • cerebello-oculorenal syndrome 1
  • Joubert-Boltshauser syndrome
  • cerebelloparenchymal disorder IV
  • Corresponding gene INPP5E
    Other symbol(s) CORS1, CPD4
    Main clinical features
  • characterized by agenesis or dysgenesis of the cerebellar vermis, hypotonia, ataxia, mental retardation and either abnormal eye movements or episodic hyperpnea or both, axial magnetic resonance imaging of the upper brain stem shows a characteristic "molar tooth" appearance due to an abnormally deep posterior interpeduncular fossa, prominent or thickened superior cerebellar pedoncules, and hypoplasia and clefting of primarily the superior vermis
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s) mutations caused missense changes that clustered within the enzymatically active phosphatase domain (Bielas 2009)