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32 results
  1. ... unknown. Learn more about the genes associated with Senior-Løken syndrome CEP290 NPHP1 WDR19 Additional Information from NCBI Gene: ... Renal dysplasia and retinal aplasia Renal-retinal syndrome Senior-Loken syndrome Additional Information & Resources Genetic Testing Information Genetic Testing ...
  2. ... about Joubert syndrome More About This Health Condition Senior-Løken syndrome MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Other disorders Mutations ...
  3. ... about Meckel syndrome More About This Health Condition Senior-Løken syndrome MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Other disorders Several ...
  4. ... about Retinitis pigmentosa More About This Health Condition Senior-Løken syndrome MedlinePlus Genetics provides information about Senior-Løken syndrome ...
  5. ... Arima syndrome (retinopathy, cystic dysplastic kidneys) [ Dekaban 1969 ] Senior-Løken syndrome (SLS; retinopathy and juvenile-onset nephronophthisis) [ Løken et ...
  6. ... and Bardet-Biedl syndrome [ Huber & Cormier-Daire 2012 ]. Senior-Løken syndrome (OMIM 266900 ) is a heterogeneous autosomal recessive disorder ... and WDR19 have been detected in persons with Senior-Løken syndrome. (Note: Pathogenic variants in WDR19 are also associated ...
  7. ... referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and ...
  8. ... syndrome SENDA, see Beta-propeller protein-associated neurodegeneration Senior-Loken syndrome, see Senior-Løken syndrome Senior-Løken syndrome SENS, see Scalp-ear-nipple ...
  9. ... atypical. CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8 TRAF3IP1 WDR19 Senior-Løken syndrome (SLS) (OMIM PS266900 ) AR Retinal degeneration Kidney disease ... syndrome Leber congenital amaurosis Meckel syndrome (OMIM 611134 ) Senior-Løken syndrome (OMIM 610189 ) See footnote 10. IFT27 (BBS19) <1% ...
  10. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/senior-loken-syndrome</url><title >Senior-Løken syndrome</title><other_names >< ...
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