Joubert syndrome with ocular defect

MONDO:0016364

Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.

Also known as: JS-O, Joubert syndrome with retinopathy, JBTS3, Joubert syndrome 3, Joubert syndrome with ocular anomalies

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

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