X-linked intellectual disability, Pai type
ORPHA:85322Malformation syndromeX-linked recessiveChildhood, Infancy
Фенотипы (HPO)18
Очень частый (80–99%)4
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002205Recurrent respiratory infections
HP:0010864Intellectual disability, severe
Частый (30–79%)2
HP:0000750Delayed speech and language development
HP:0001511Intrauterine growth retardation
Периодический (5–29%)12
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000034Hydrocele testis
HP:0000160Narrow mouth
HP:0000286Epicanthus
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0001182Tapered finger
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0002510Spastic tetraplegia
HP:0002750Delayed skeletal maturation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Family(ies) |
| 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)