Keyword
Senior-Loken syndrome
| 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. |
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| Synonyms |
Juvenile nephronophthisis with Leber amaurosis
Loken-Senior syndrome
Renal dysplasia and retinal aplasia
Renal-retinal syndrome
Senior-Loeken syndrome
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| Category |
› Disease
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