Fragile X syndrome
ORPHA:908Malformation syndromeX-linked dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)7
HP:0001382Joint hypermobility
HP:0000053Macroorchidism
HP:0000389Chronic otitis media
HP:0001763Pes planus
HP:0002167Abnormality of speech or vocalization
HP:0002342Intellectual disability, moderate
HP:0003564Folate-dependent fragile site at Xq28
Частый (30–79%)17
HP:0000246Sinusitis
HP:0000256Macrocephaly
HP:0000275Narrow face
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000388Otitis media
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0002003Large forehead
HP:0002007Frontal bossing
HP:0002020Gastroesophageal reflux
HP:0002194Delayed gross motor development
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0007018Attention deficit hyperactivity disorder
Периодический (5–29%)9
HP:0000486Strabismus
HP:0000717Autism
HP:0000737Irritability
HP:0000739Anxiety
HP:0001250Seizure
HP:0001634Mitral valve prolapse
HP:0002120Cerebral cortical atrophy
HP:0004970Ascending tubular aorta aneurysm
HP:0100716Self-injurious behavior
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 32.5 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.7 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.3 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 19 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.11 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.4 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)