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Results 1 - 9 of 9 for Joubert syndrome 2
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 1; JBTS1 JOUBERT SYNDROME 10; JBTS10 JOUBERT SYNDROME 2; JBTS2 JOUBERT SYNDROME 3; JBTS3 JOUBERT SYNDROME 5; JBTS5 JOUBERT SYNDROME ... 88. doi: 10.1016/B978-0-444-59565-2.00058-7. Citation on PubMed
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. Polymicrogyria 
    ... disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  3. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
    https://medlineplus.gov/cerebellardisorders.html - Health Topics
  4. 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
  5. 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
  6. 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
  7. 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
  8. L1 syndrome 
    ... D, Mora-Lopez F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J ... 1541-4. doi: 10.1007/s00431-015-2560-2. Epub 2015 May 7. Citation on PubMed ... 10.1002/humu.1144. Citation on PubMed
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  9. 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