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103 results
  1. 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 ...
  2. 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 ...
  3. 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, ...
  4. 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 ...
  5. 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 ...
  6. Nephronophthisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal ... the kidneys 12 RPGRIP1L NPHP8 Pathogenic variants cause Joubert syndrome. Biallelic truncating variants generally cause the more severe ...
  7. 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/ ...
  8. Congenital Mirror Movements - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK279760
    ... mirror movements have also been occasionally reported in Joubert syndrome [ Ferland et al 2004 ], Moebius syndrome (OMIM 157900 ) [ ... Tassabehji et al 2008 , Mohamed et al 2013 ]. Joubert syndrome corresponds to a clinically and genetically heterogeneous group ...
  9. Polymicrogyria Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1329
    ... OMIM 251290 OFD1 x Frontal and parietal PMG Joubert syndrome (XLR); orofaciodigital syndrome 1 (XLD) XL Joubert Syndrome PAX6 x Variable temporal PMG AR OMIM 607108 ...
  10. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... OFD1 have been reported in several individuals with Joubert syndrome [ Coene et al 2009 , Field et al 2012 , ... tooth sign leading some to consider OFD6 a Joubert syndrome -related disorder. OFD8 (OMIM 300484 ), apparently inherited as ...
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