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  1. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... Search term GeneReviews Advanced Search Help < Prev Next > Joubert Syndrome Synonyms: JBTS, Joubert Syndrome and Related Disorders (JSRD), ... 2009 , Brancati et al 2010 ]. The diagnosis of Joubert syndrome is based on the presence of the following ...
  2. Joubert syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/joubert-syndrome
    ... unknown. Learn more about the genes associated with Joubert syndrome CEP290 KIF7 NPHP1 OFD1 Additional Information from NCBI ...
  3. CEP290 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cep290
    ... Bardet-Biedl syndrome More About This Health Condition Joubert syndrome MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition Meckel syndrome MedlinePlus ...
  4. OFD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ofd1
    ... tissues and organs. More About This Health Condition Joubert syndrome Mutations in the OFD1 gene can also cause ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, ...
  5. NPHP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nphp1
    ... mechanism remains unclear. More About This Health Condition Joubert syndrome MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition Senior-Løken syndrome ...
  6. KIF7 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/kif7
    ... with acrocallosal syndrome. More About This Health Condition Joubert syndrome MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition Other Names for ...
  7. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... a syndrome (e.g., Bardet-Biedl syndrome and Joubert syndrome). With time, some individuals who originally presented with ... NPH-RC), the prevalence of renal disease varies. Joubert syndrome (JS). Classic JS is characterized by three primary ...
  8. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Joubert syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  9. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... pathogenic variants have been reported in males with Joubert syndrome, primary ciliary dyskinesia, and retinitis pigmentosa (see Table ... View in own window Disorder References OFD1 -related Joubert syndrome Coene et al [2009] , Field et al [2012] , ...
  10. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... part of syndromes including Senior-Loken syndrome and Joubert syndrome (see Table 2 ). Early molecular diagnosis can help ... waveform. NCL is assoc w/neurocognitive decline & epilepsy. Joubert syndrome >30 genes 5 AR XL 6 Presents w/ ...
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