Vici syndrome
ORPHA:1493Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)14
HP:0001010Hypopigmentation of the skin
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001522Death in infancy
HP:0001638Cardiomyopathy
HP:0002205Recurrent respiratory infections
HP:0002353EEG abnormality
HP:0002719Recurrent infections
HP:0004322Short stature
HP:0005374Cellular immunodeficiency
HP:0005999Ureteral atresia
HP:0007703Abnormality of retinal pigmentation
Частый (30–79%)10
HP:0000218High palate
HP:0000437Depressed nasal tip
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001321Cerebellar hypoplasia
HP:0001947Renal tubular acidosis
HP:0002282Gray matter heterotopia
HP:0012110Hypoplasia of the pons
Периодический (5–29%)11
HP:0000316Hypertelorism
HP:0000407Sensorineural hearing impairment
HP:0000601Hypotelorism
HP:0001103Abnormal macular morphology
HP:0001387Joint stiffness
HP:0002120Cerebral cortical atrophy
HP:0002360Sleep abnormality
HP:0004315Decreased circulating IgG level
HP:0008348Decreased circulating IgG2 level
HP:0008872Feeding difficulties in infancy
HP:0011968Feeding difficulties
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)