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Results 1 - 7 of 7 for Renal dysplasia retinal aplasia
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  1. Senior-Løken syndrome 
    ... and symptoms of the condition. Loken-Senior syndrome Renal dysplasia and retinal aplasia Renal-retinal syndrome Senior-Loken syndrome Genetic Testing ...
    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. 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