Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Keyword - Senior-Loken syndrome (KW-0980)

Keywords navigation



Protein which, if defective, causes Senior-Loken syndrome, a genetically and clinically heterogeneous disease characterized by nephronophthisis and retinal abnormalities manifesting as congenital retinal blindness or retinitis pigmentosa. Senior-Loken syndrome can be associated with manifestations such as cerebellar ataxia and skeletal abnormalities including cone epiphyses.


  • Juvenile nephronophthisis with Leber amaurosis
  • Loken-Senior syndrome
  • Renal dysplasia and retinal aplasia
  • Renal-retinal syndrome
  • Senior-Loeken syndrome




CiliopathySenior-Loken syndromeDisease
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again