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Results 1 - 9 of 9 for Joubert syndrome related disorders
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  1. 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
  2. Joubert syndrome 
    ... disorders. Together, those disorders were referred to as Joubert syndrome and related disorders (JSRD). Now, however, any instances that involve the ... JBTS14 PubMed Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5: ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - 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. OFD1 gene 
    ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, weak muscle ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  6. 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
  7. 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
  8. L1 syndrome 
    ... L1 syndrome Disease InfoSearch National Organization for Rare Disorders ... 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
  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