Perrault syndrome
ORPHA:2855DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Фенотипы (HPO)19
Очень частый (80–99%)2
HP:0000407Sensorineural hearing impairment
HP:0000837Increased circulating gonadotropin level
Частый (30–79%)4
HP:0000013Hypoplasia of the uterus
HP:0000786Primary amenorrhea
HP:0008209Premature ovarian insufficiency
HP:0010464Streak ovary
Периодический (5–29%)13
HP:0000027Azoospermia
HP:0000175Cleft palate
HP:0000218High palate
HP:0000813Bicornuate uterus
HP:0000869Secondary amenorrhea
HP:0000876Oligomenorrhea
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001513Obesity
HP:0001519Disproportionate tall stature
HP:0003477Peripheral axonal neuropathy
HP:0007256Abnormal pyramidal sign
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 124 | 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)