OFD1 and Joubert syndrome 10: In humans, the truncation of the C-terminus of the protein causes PCD without severe neurological, skeletal, or renal symptoms characteristic for other OFD1-related syndromes associated with the loss of a larger part of the OFD1 protein cause syndromic diseases (e.g., oral-facial-digital syndrome type 1 or Joubert syndrome type 10).