fragile X syndrome http://purl.bioontology.org/ontology/MEDDRA/10017324 http://purl.bioontology.org/ontology/MESH/D005600 http://purl.bioontology.org/ontology/SNOMEDCT/613003 http://purl.obolibrary.org/obo/DOID_14261 http://purl.obolibrary.org/obo/NCIT_C84717 https://en.wikipedia.org/wiki/Fragile_X_syndrome https://www.wikidata.org/wiki/Q221472 A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. An X-linked syndrome that is characterized by moderate to severe intellectual disability, 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. FXS fragile X mental retardation syndrome allosomal chromosomal syndrome The Complete Dictionary of Sexology