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Results 1 - 1 of 1 for Joubert syndrome 34
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  1. 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