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Joubert syndrome 17

MONDO:0013824

Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.

Also known as: CPLANE1 Joubert syndrome, JBTS17, Joubert syndrome 17, Joubert syndrome caused by mutation in CPLANE1, Joubert syndrome type 17

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

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Sub-types

Orofaciodigital syndrome type 6 (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) 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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