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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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  • A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
database_cross_reference
  • url:http://omim.org/entry/300624
  • url:http://en.wikipedia.org/wiki/Fragile_X_syndrome
  • url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908
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