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JA
Joubert syndrome with ocular defect
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.
Hand polydactyly
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
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