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References OMIM Gene GeneReviews HGMD HGNC
last update : 26/12/06
Symbol JBTS6
Location 8q22.1
Name Joubert syndrome 6
Corresponding gene TMEM67
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
    Prevalence 10p100 of patients with Joubert syndrome
    Function/system disorder neurology
    kidney and urinary tract
    Type disease