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Results 1 - 3 of 3 for Joubert syndrome 30
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  1. Joubert syndrome 
    ... as Ashkenazi Jewish, French-Canadian, and Hutterite populations. Joubert syndrome can be caused by mutations in more than 30 genes. The proteins produced from these genes are ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. 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
  3. L1 syndrome 
    ... however, HSAS is estimated to affect 1 in 30,000 males. L1 syndrome is caused by mutations in the L1CAM gene. ... syndrome National Organization for Rare Disorders (NORD) ... D, Devisme L, Dijoud F, Fabre 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