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Results 1 - 10 of 43 for Joubert syndrome related disorders
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  1. Joubert syndrome 
    ... syndrome based on their additional features. The term “Joubert syndrome and related disorders” (JSRD) was used to refer to these subgroups. ... CORS CPD Familial aplasia of the vermis JBTS Joubert Syndrome and Related Disorders Joubert-Bolthauser syndrome JSRD Genetic Testing Registry: Joubert ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. CEP290 gene 
    ... frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1): ... E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. Joubert Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Joubert syndrome is a rare genetic condition characterized by abnormal brain development that includes the absence or underdevelopment of the cerebellar ...
    https://www.ninds.nih.gov/.../disorders/joubert-syndrome - External Health Links
  4. Patient support and advocacy groups 
    ... Jain Foundation Jeffrey Modell Foundation Joshua Frase Foundation Joubert Syndrome and Related Disorders Foundation Kabuki Syndrome Foundation Kabuki Syndrome Network KBG ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  5. 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
  6. NPHP1 gene 
    ... nephronophthisis and breakdown of the retina (retinal degeneration). Joubert syndrome is a multisystem disorder that typically involves neurological problems and can include ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  7. L1 syndrome 
    ... hydrocephalus syndrome L1 syndrome ... Carles D, Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  8. OFD1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  9. 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
  10. Inflammation From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Inflammation is a normal part of the body’s defense to injury or infection, and, in this way, it is beneficial. But inflammation is damaging when it occurs ...
    https://www.niehs.nih.gov/health/topics/conditions/inflammation - External Health Links
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