Oculo-palato-cerebral syndrome
ORPHA:2714Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)2
HP:0000568Microphthalmia
HP:0002099Asthma
Частый (30–79%)19
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000391Thickened helices
HP:0000400Macrotia
HP:0000518Cataract
HP:0000555Leukocoria
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001773Short foot
HP:0002705High, narrow palate
HP:0004322Short stature
HP:0006913Frontal cortical atrophy
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0007968Remnants of the hyaloid vascular system
HP:0008386Aplasia/Hypoplasia of the nails
HP:0200055Small hand
Периодический (5–29%)3
HP:0000501Glaucoma
HP:0000541Retinal detachment
HP:0002283Global brain atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)