DISEASES

Disease-gene associations mined from literature

Human genes for fragile X syndrome

Fragile X syndrome [DOID:14261]

Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most common known single-gene cause of autism and the most common inherited cause of intellectual disability. It results in a spectrum of intellectual disability ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and larger testes (macroorchidism), behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.

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