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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

3 clinical trials for this condition and its sub-types.

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Sub-types

Joubert syndrome 1 (0) Joubert syndrome 10 (0) Joubert syndrome 11 (0) Joubert syndrome 13 (0) Joubert syndrome 14 (0) Joubert syndrome 15 (0) Joubert syndrome 16 (0) Joubert syndrome 17 (0) Joubert syndrome 18 (0) Joubert syndrome 19 (0) Joubert syndrome 2 (0) Joubert syndrome 20 (0) Joubert syndrome 21 (0) Joubert syndrome 22 (0) Joubert syndrome 23 (0) Joubert syndrome 24 (0) Joubert syndrome 25 (0) Joubert syndrome 26 (0) Joubert syndrome 27 (0) Joubert syndrome 28 (0)

Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)

Trials to join now! 2 Completed 1