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22 results
  1. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... CEP290- associated LCA) as part of syndromes including Senior-Loken syndrome and Joubert syndrome (see Table 2 ). Early molecular diagnosis can help identify individuals who require systemic investigations. ...
  2. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... be associated with Meckel-Gruber syndrome (OMIM PS249000 ). Senior-Løken ... of Nephronophthisis-Related Ciliopathies Tubulointerstitial kidney diseases, cystic ...
  3. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... 2 WDR19 Jeune asphyxiating thoracic dystrophy 1 Nephronophthisis Senior-Løken syndrome ... Differential Diagnosis Cranioectodermal dysplasia (CED) is part of a spectrum ...
  4. Retinal Disorders 
    https://medlineplus.gov/retinaldisorders.html
    The retina is a layer of tissue in the back of your eye. It senses light and sends images to your brain. Learn about retinal disorders and treatments. ...
  5. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... atypical. CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8 TRAF3IP1 WDR19 ... degeneration & assoc symptoms (e.g., ↓ visual acuity) Absence of other organ ...
  6. NPHP1 gene 
    https://medlineplus.gov/genetics/gene/nphp1
    ... NPHP1 gene mutations develop the additional signs and symptoms of Senior-Løken syndrome or Joubert syndrome. JBTS4 juvenile nephronophthisis 1 protein ...
  7. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... which means they occur without other signs and symptoms. Some people with ... syndrome is characterized by the combination of nephronophthisis ...
  8. Senior-Løken syndrome 
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome
    ... but they typically do not show signs and symptoms of the condition. Loken-Senior syndrome Renal dysplasia and retinal aplasia Renal-retinal syndrome Senior-Loken syndrome Genetic Testing Registry: Senior-Loken syndrome 1 ...
  9. Nephronophthisis 
    https://medlineplus.gov/genetics/condition/nephronophthisis
    ... which means they occur without other signs and symptoms. Some people with ... syndrome is characterized by the combination of nephronophthisis ...
  10. Joubert syndrome 
    https://medlineplus.gov/genetics/condition/joubert-syndrome
    ... sign, including those with these additional signs and symptoms, are usually considered Joubert syndrome. Joubert syndrome is estimated to affect between 1 ...
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