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Results 1 - 9 of 9 for "Senior-Loken" syndrome 1
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  1. Senior-Løken syndrome 
    ... National Organization for Rare Disorders (NORD) SENIOR-LOKEN SYNDROME 1; SLSN1 SENIOR-LOKEN SYNDROME 3; SLSN3 SENIOR-LOKEN SYNDROME 4; SLSN4 ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  2. Joubert syndrome 
    Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  3. NPHP1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Mutations in the ... such conditions are known as nephronophthisis-associated ciliopathies. Senior-Løken syndrome is characterized by the combination of nephronophthisis and ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  4. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Several dozen variants ... body systems and include Joubert syndrome, Meckel syndrome, Senior-Løken syndrome, and Bardet-Biedl syndrome (mentioned above). The features ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  5. WDR19 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition ATD5 CED4 DYF- ... mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 Aug;84(2):150-9. ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  6. Nephronophthisis 
    ... referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  7. Kidney Diseases (National Library of Medicine)  
    You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about ...
    https://medlineplus.gov/kidneydiseases.html - Health Topics
  8. Farsightedness 
    ... aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin-Chaudhry-Moss syndrome, Down syndrome, and fragile ...
    https://medlineplus.gov/genetics/condition/farsightedness - Genetics
  9. Retinal Disorders (National Library of Medicine)  
    The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. ...
    https://medlineplus.gov/retinaldisorders.html - Health Topics