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last update : 20/08/07
Symbol JBTS7
Location 16q12.2
Name Joubert syndrome 7
Other name(s)
  • cerebello-oculo-renal syndrome 3
  • Joubert syndrome type B
  • Corresponding gene RPGRIP1L
    Other symbol(s) CORS3
    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
  • nephronophtisis or rarelyenlarged cystic kidneys
  • Genetic determination autosomal recessive
    Function/system disorder eye
    kidney and urinary tract
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    various types     missense mutations diminishes the interaction between RPGRIP1L and nephrocystin-4
    Remark(s) RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)