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Results 1 - 10 of 43 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. Oculomotor Apraxia (American Association for Pediatric Ophthalmology and Strabismus)  
    GLOSSARY, TERMS, ACRONYMS, PHRASES, DEFINITIONS, DICTIONARY ... Shows a single glossary entry ... Eye Movement Disorders/Specifics ... Eye Movement Disorders ... American ...
    https://www.aapos.org/glossary/oculomotor-apraxia - External Health Links
  10. 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
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