Joubert syndrome 2; cerebello-oculo-renal syndrome; Joubert syndrome type B (JBTS2)
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Pathology
Genetics
- autosomal recessive
- associated with mutation in RPGRIP1L gene
More general terms
References
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/17558409