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Results 1 - 7 of 7 for Joubert syndrome 13
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 27; JBTS27 JOUBERT SYNDROME 28; JBTS28 JOUBERT SYNDROME 13; JBTS13 JOUBERT SYNDROME 25; JBTS25 JOUBERT SYNDROME 26; JBTS26 JOUBERT SYNDROME ...
    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):104-13. doi: 10.1086/519026. Epub 2007 May 18. ...
    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. NPHP1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  5. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22;54(4):909-13. doi: 10.1212/wnl.54.4.909. Citation ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. 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
  7. L1 syndrome 
    ... doi: 10.1002/(sici)1096-8628(20000501)92:13.0.co;2-r. Citation on PubMed Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. J Neurosurg. 2006 Nov; ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics