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Joubert syndrome 22

MONDO:0014297

Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.

Also known as: JBTS22, Joubert syndrome 22, Joubert syndrome caused by mutation in PDE6D, Joubert syndrome type 22, PDE6D 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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