X-linked intellectual disability, Schimke type
ORPHA:85285Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)26
Частый (30–79%)14
HP:0000365Hearing impairment
HP:0000544External ophthalmoplegia
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001266Choreoathetosis
HP:0001344Absent speech
HP:0001531Failure to thrive in infancy
HP:0002033Poor suck
HP:0002421Poor head control
HP:0004322Short stature
HP:0005484Secondary microcephaly
HP:0008947Floppy infant
HP:0100660Dyskinesia
Периодический (5–29%)12
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000218High palate
HP:0000446Narrow nasal bridge
HP:0000490Deeply set eye
HP:0001347Hyperreflexia
HP:0002120Cerebral cortical atrophy
HP:0002987Elbow flexion contracture
HP:0003273Hip contracture
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0011471Gastrostomy tube feeding in infancy
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)