{"orpha":449291,"name":"OBSOLETE: Symptomatic form of fragile X syndrome in female carriers","type":"Disease","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Fragile X syndrome","url":"https://raremap.alftech.space/d/ORPHA-449291/","orphanet_url":"https://www.orpha.net/en/disease/detail/449291","names":{"fr":{"name":"OBSOLETE : Forme symptomatique du syndrome de l'X fragile de la femme porteuse"},"de":{"name":"OBSOLET: Symptomatische Form des Fra(X)-Syndroms bei weiblichen Anlageträgerinnen"},"es":{"name":"OBSOLETO: Forma sintomática del síndrome de X frágil en mujeres portadoras"},"it":{"name":"OBSOLETO: Forma sintomatica della sindrome dell'X fragile nelle donne portatrici"},"nl":{"name":"OBSOLEET: Symptomatische vorm van fragiele-X-syndroom bij vrouwelijke dragers"},"pt":{"name":"OBSOLETO: Síndrome de X-Frágil sintomático em mulheres portadoras"},"pl":{"name":"NIEAKTUALNE: Objawowa postać zespołu łamliwego chromosomu X u kobiet nosicielek"},"cs":{"name":"NEAKTUÁLNÍ: Symptomatická forma fragilního X u žen přenašeček"},"uk":{"name":"Симптоматична форма синдрому ламкої Х-хромосоми у жінок-носіїв","definition":"A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism)."},"zh":{"name":"脆性X综合征女性携带者的症状"},"tr":{"name":"Kadın taşıyıcıda frajil X sendromunun semptomatik formu"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":908,"name":"Fragile X syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}