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fragile X syndrome
Summary
- Synonym
-
- 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.
- Super Class
- X-linked dominant disease syndrome
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Related Genes
Related Glycoprotein
