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Joubert syndrome 2; cerebello-oculo-renal syndrome; Joubert syndrome type B (JBTS2)

Pathology: - ciliary disorder Genetics: - autosomal recessive - associated with mutation in RPGRIP1L gene

General

Joubert syndrome ciliary disorder; ciliopathy

References

  1. Delous M et al, The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007, 39:875 PMID: 17558409