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Up to: Syndromic disease · Disorder of development or morphogenesis · Ciliopathy

Joubert syndrome

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

2 trials tagged with this condition →