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Results 1 - 2 of 2 for Joubert syndrome 27
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  1. ... JOUBERT SYNDROME 15; JBTS15 JOUBERT SYNDROME 16; JBTS16 JOUBERT SYNDROME 27; JBTS27 JOUBERT SYNDROME 28; JBTS28 JOUBERT SYNDROME 13; JBTS13 JOUBERT SYNDROME ...
  2. ... 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 ...