Senior-Loken-Syndrom 1 ist eine autosomal rezessive Erkrankung mit medullären Nierenzysten, die durch Mutationen im NPHP1-Gen hervorgerufen wird. Neben einer meist im Kindesalter beginnenden progressive Niereninsuffizienz ist die Erkrankung mit einer Leberschen Amaurose vergesellschaftet.
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OMIM.ORG article Omim 266900 |