Synonyms: Nephronophthisis with retinal dystrophy | Renal dysplasia-retinal aplasia syndrome | SLSN
A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP) a chronic kidney disease with retinal dystrophy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Senior-Loken syndrome?
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Clinical Trials
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