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Joubert syndrome 18

MONDO:0013896

Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.

Also known as: JBTS18, Joubert syndrome 18, Joubert syndrome caused by mutation in TCTN3, Joubert syndrome type 18, TCTN3 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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  • Scientists hunt for early warning signs of kidney failure in rare genetic diseases

    Knowledge-focused Completed

    This completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…

    Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:29 UTC

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