Term Name: | fragile X syndrome |
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Synonyms: | FRAGILE X MENTAL RETARDATION SYNDROME, MARKER X SYNDROME, MARTIN-BELL SYNDROME |
Definition: | 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. |
Ontology: | Human Disease [DOID:14261] ( DOID:14261 ) |