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Results 1 - 10 of 42 for Joubert syndrome 1
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  1. Joubert syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov JOUBERT SYNDROME 1; JBTS1 JOUBERT SYNDROME 10; JBTS10 JOUBERT SYNDROME 2; JBTS2 JOUBERT ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. NPHP1 gene 
    ... signs and symptoms of Senior-Løken syndrome or Joubert syndrome. JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 nephronophthisis 1 (juvenile) NPH1 SLSN1 ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. CEP290 gene 
    ... frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. OFD1 gene 
    ... JBTS10 MGC117039 MGC117040 OFD1_HUMAN oral-facial-digital syndrome 1 SGBS2 Tests of OFD1 PubMed OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1 JOUBERT SYNDROME 10; JBTS10 NCBI Gene ClinVar Bisschoff IJ, ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  5. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis. Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  6. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
    https://medlineplus.gov/cerebellardisorders.html - Health Topics
  7. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... Andermann F. Familial perisylvian polymicrogyria: a new familial syndrome of ... 2000 Jul;48(1):39-48. Citation on PubMed Guerrini R, Barkovich ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  8. Patient support and advocacy groups 
    ... Jain Foundation Jeffrey Modell Foundation Joshua Frase Foundation Joubert Syndrome and Related Disorders Foundation Kabuki Syndrome Foundation Kabuki ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  9. L1 syndrome 
    ... stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.HSAS ... is unknown; however, HSAS is estimated to affect 1 in 30,000 males. L1 syndrome is caused by mutations in the L1CAM gene. ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  10. Lung Diseases From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Lung disease refers to several types of diseases or disorders that prevent the lungs from functioning properly. Lung disease can affect respiratory function, ...
    https://www.niehs.nih.gov/health/topics/conditions/lung-disease - External Health Links
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