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Joubert syndrome 13

MONDO:0013608

Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.

Also known as: JBTS13, Joubert syndrome 13, Joubert syndrome caused by mutation in TCTN1, Joubert syndrome type 13, TCTN1 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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