Joubert syndrome 04
Joubert syndrome 4 is an autosomal recessive disorder caused by mutations of the NPHP1 gene.
Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.[^]
Parisi MA et al. (2004) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.[^]
OMIM.ORG articleOmim 609583 [^]