(Q3508783)

English

oral-facial-digital syndrome

genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has material basis in X-linked inheritance of an OFD gene

  • Papillon-Leage and Psaume syndrome
  • Oral-facial-digital syndrome
  • orofaciodigital syndrome
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