Joubert syndrome with renal defect

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

Highly arched eyebrow

Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.


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PMID (PMCID)