Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
ORPHA:411986Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)36
Частый (30–79%)14
HP:0000294Low anterior hairline
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000506Telecanthus
HP:0000629Periorbital fullness
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0002079Hypoplasia of the corpus callosum
HP:0002465Poor speech
HP:0010818Generalized tonic seizure
HP:0010841Multifocal epileptiform discharges
HP:0012105Occipital cortical atrophy
HP:0012110Hypoplasia of the pons
HP:0100704Cerebral visual impairment
Периодический (5–29%)22
HP:0000232Everted lower lip vermilion
HP:0000322Short philtrum
HP:0000341Narrow forehead
HP:0000414Bulbous nose
HP:0000426Prominent nasal bridge
HP:0000527Long eyelashes
HP:0000528Anophthalmia
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000733Abnormal repetitive mannerisms
HP:0001252Hypotonia
HP:0001336Myoclonus
HP:0002121Generalized non-motor (absence) seizure
HP:0002384Focal impaired awareness seizure
HP:0002521Hypsarrhythmia
HP:0002540Inability to walk
HP:0009748Large earlobe
HP:0009904Prominent ear helix
HP:0010819Atonic seizure
HP:0012469Infantile spasms
HP:0012471Thick vermilion border
HP:0040159Abnormal spaced incisors
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)