Senior-Loken syndrome type 6(redirected from juvenile nephronophthisis with Leber amaurosis)
Senior-Loken syndrome type 6An autosomal recessive disorder (OMIM:610189) characterised by progressive wasting of nephrons, with or without medullary cystic kidney disease, and progressive tapetoretinal degeneration.
Caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.
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