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Results 1 - 7 of 7 for Joubert syndrome 15
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 21; JBTS21 JOUBERT SYNDROME 24; JBTS24 JOUBERT SYNDROME 15; JBTS15 JOUBERT SYNDROME 16; JBTS16 JOUBERT SYNDROME 27; JBTS27 JOUBERT SYNDROME ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. NPHP1 gene 
    ... is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 ... nephronophthisis. Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres. ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. 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
  4. 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
  5. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology ... Am J Med Genet A. 2006 Nov 15;140(22):2416-25. doi: 10.1002/ajmg. ...
    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 
    ... Gebre-Medhin S, Hofstra RM, Schafer MK. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. Clin Genet. 2017 Jan;91(1):115-120. doi: 10.1111/cge.12763. Epub 2016 Mar 15. Citation on PubMed Ferese R, Zampatti S, Griguoli ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics