orofaciodigital syndrome I (Q3508786)

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An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.
  • Papillon-Leage-Psaume syndrome
  • orofaciodigital syndrome 1
  • orofaciodigital syndrome type I
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English
orofaciodigital syndrome I
An orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.
  • Papillon-Leage-Psaume syndrome
  • orofaciodigital syndrome 1
  • orofaciodigital syndrome type I

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