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Joubert syndrome 23

MONDO:0014664

Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.

Also known as: JBTS23, Joubert syndrome 23, Joubert syndrome caused by mutation in KIAA0586, Joubert syndrome type 23, KIAA0586 Joubert syndrome

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

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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) Joubert syndrome (2) Disease by body system or component (0) Disease by developmental or physiological process (0)
Trials to join now! 1 Completed 1
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