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Joubert syndrome

MONDO:0018772

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.

Also known as: CPD IV, Joubert syndrome, Joubert syndrome type A, Joubert-Boltshauser syndrome, cerebelloparenchymal disorder IV, classic Joubert syndrome, pure Joubert syndrome, cerebellar vermis agenesis

2 clinical trials for this condition and its sub-types, 2 tagged with Joubert syndrome itself.

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