Joubert syndrome 1
MONDO:0008944Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.
Also known as: CORS1, CPD4, INPP5E Joubert syndrome, JBTS1, Joubert syndrome 1, Joubert syndrome caused by mutation in INPP5E, Joubert syndrome type 1, cerebellooculorenal syndrome 1
2 clinical trials for this condition and its sub-types.
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