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Results 1 - 3 of 3 for Joubert syndrome related disorders
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  1. CEP290 gene 
    ... frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1): ... E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. OFD1 gene 
    ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, weak muscle ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  3. NPHP1 gene 
    ... nephronophthisis and breakdown of the retina (retinal degeneration). Joubert syndrome is a multisystem disorder that typically involves neurological problems and can include ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics