Term Name: fragile X syndrome
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 )

Relationships
is a type of: syndrome X-linked dominant disease