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Results 1 - 7 of 7 for Joubert syndrome 3
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 10; JBTS10 JOUBERT SYNDROME 2; JBTS2 JOUBERT SYNDROME 3; JBTS3 JOUBERT SYNDROME 5; JBTS5 JOUBERT SYNDROME 6; JBTS6 JOUBERT SYNDROME ... or Free article on PubMed Central Doherty D. Joubert syndrome: ... disease. Semin Pediatr Neurol. 2009 Sep;16(3):143-54. doi: 10.1016/j.spen.2009. ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. OFD1 gene 
    ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, ... and breathing problems. The OFD1 mutations responsible for Joubert syndrome lead to the production of an abnormally short ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  4. NPHP1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  5. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  7. L1 syndrome 
    ... Rodriguez-Sanchez F, Arroyo D, Mora-Lopez F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics