Senior-Loken syndrome type 6

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Senior-Loken syndrome type 6

An autosomal recessive disorder (OMIM:610189) characterised by progressive wasting of nephrons, with or without medullary cystic kidney disease, and progressive tapetoretinal degeneration.
 
Molecular pathology
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.