Deafness-hypogonadism syndrome
ORPHA:90646Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)11
HP:0000381Stapes ankylosis
HP:0000405Conductive hearing impairment
HP:0000408Progressive sensorineural hearing impairment
HP:0000815Hypergonadotropic hypogonadism
HP:0000823Delayed puberty
HP:0002750Delayed skeletal maturation
HP:0004452Abnormality of the middle ear ossicles
HP:0008669Abnormal spermatogenesis
HP:0011384Abnormality of the internal auditory canal
HP:0011388Enlarged cochlear aqueduct
HP:0012717Severe conductive hearing impairment
Частый (30–79%)1
HP:0000708Atypical behavior
Периодический (5–29%)6
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0001100Heterochromia iridis
HP:0100503Low levels of vitamin B1
HP:0100543Cognitive impairment
HP:0007642Congenital stationary night blindness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)