Joubert syndrome (JS)is a congenital cerebellar ataxia characterized by an unusual malformation of the midbrain (molar tooth sign) and a variable involvement of other organs. In 20-30% of cases, patients can develop nephronophthisis with kidney failure and renal cysts. Its inheritance pattern can be autosomal recessive or X-linked.
Pathogenic variants associated with this syndrome affect genes that encode primary cilia proteins, which play a major role during embryonic development. It shows high phenotypic variability and genetic heterogeneity.
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