X-linked intellectual disability, Stevenson type
ORPHA:85325Malformation syndromeX-linked recessiveChildhood
Фенотипы (HPO)22
Очень частый (80–99%)14
HP:0000391Thickened helices
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001284Areflexia
HP:0001513Obesity
HP:0001999Abnormal facial shape
HP:0002342Intellectual disability, moderate
HP:0002857Genu valgum
HP:0007477Abnormal dermatoglyphics
HP:0009928Thick nasal alae
HP:0010761Broad columella
HP:0010864Intellectual disability, severe
HP:0100540Palpebral edema
Частый (30–79%)8
HP:0000098Tall stature
HP:0000377Abnormal pinna morphology
HP:0000574Thick eyebrow
HP:0000691Microdontia
HP:0001176Large hands
HP:0001833Long foot
HP:0010804Tented upper lip vermilion
HP:0011968Feeding difficulties
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)