X-linked intellectual disability-plagiocephaly syndrome
ORPHA:2898Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)14
Частый (30–79%)14
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000280Coarse facial features
HP:0000750Delayed speech and language development
HP:0001357Plagiocephaly
HP:0001558Decreased fetal movement
HP:0001662Bradycardia
HP:0002342Intellectual disability, moderate
HP:0002506Diffuse cerebral atrophy
HP:0005469Flat occiput
HP:0007000Morning myoclonic jerks
HP:0007281Developmental stagnation
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)