Rare non-syndromic genetic deafness
ORPHA:87884DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Фенотипы (HPO)13
Частый (30–79%)6
HP:0000399Prelingual sensorineural hearing impairment
HP:0000408Progressive sensorineural hearing impairment
HP:0000750Delayed speech and language development
HP:0001963Abnormal speech discrimination
HP:0008596Postlingual sensorineural hearing impairment
HP:0011476Profound sensorineural hearing impairment
Периодический (5–29%)6
HP:0000405Conductive hearing impairment
HP:0005101High-frequency hearing impairment
HP:0007670Abnormal vestibulo-ocular reflex
HP:0011474Childhood onset sensorineural hearing impairment
HP:0012713Moderate hearing impairment
HP:0012714Severe hearing impairment
Очень редкий (1–4%)1
HP:0008573Low-frequency sensorineural hearing impairment
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)