|Name||fragile X syndrome|
|Definition||A X-linked dominant disease 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.
http://en.wikipedia.org/wiki/Fragile_X_syndrome, http://omim.org/entry/300624, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908
FRAGILE X MENTAL RETARDATION SYNDROME [EXACT]
MARKER X SYNDROME [EXACT]
MARTIN-BELL SYNDROME [EXACT]