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Results 1 - 10 of 40 for Joubert syndrome 11
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  1. NPHP1 gene 
    ... is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul;75(1):82-91. doi: 10.1086/421846. Epub 2004 May 11. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  2. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. OFD1 gene 
    ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, ... and breathing problems. The OFD1 mutations responsible for Joubert syndrome lead to the production of an abnormally short ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  4. KIF7 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition ACLS AGBK EQYK340 ... Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics
  5. 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
  6. Oculomotor Apraxia (American Association for Pediatric Ophthalmology and Strabismus)  
    Eye Movement Disorders/Specifics ... Eye Movement Disorders ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, ...
    https://www.aapos.org/glossary/oculomotor-apraxia - External Health Links
  7. L1 syndrome 
    ... D, Mora-Lopez F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560- ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  8. 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
  9. National Institute of Environmental Health Sciences (National Institute of Environmental Health Sciences)  
    ... Branch Abee L. Boyles Ashlinn K. Quinn Bonnie Joubert Claudia L. Thompson Kimberly A. Gray Liam R. ... Documents June 5, 2025 April 22, 2025 September 11-12, 2024 June 4, 2024 February 12-13, ...
    https://www.niehs.nih.gov - Other Resources
  10. Renal tubular dysgenesis 
    ... condition. Allanson Pantzar McLeod syndrome Primitive renal tubule syndrome ... JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics
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