DISEASES

Disease-gene associations mined from literature

Human genes for fragile X syndrome

Fragile X syndrome [DOID:14261]

A neurodegenerative 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 a loss of FMR1 function.

Synonyms:  fragile X syndrome,  DOID:14261,  fragile X disease,  fragile X disorder,  FRAGILE X MENTAL RETARDATION SYNDROME ...

Linkouts:  OMIM