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Joubert syndrome 25

MONDO:0014770

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.

Also known as: CEP104 Joubert syndrome, JBTS25, Joubert syndrome 25, Joubert syndrome caused by mutation in CEP104, Joubert syndrome type 25

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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