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Keyword - Senior-Loken syndrome (KW-0980)

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Broader

Definition

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.

Synonyms

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

Category

Disease

Graphical

CiliopathySenior-Loken syndromeDisease
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