Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
ORPHA:488613Malformation syndromeAutosomal dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)2
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
Частый (30–79%)8
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002353EEG abnormality
HP:0002474Expressive language delay
HP:0010841Multifocal epileptiform discharges
HP:0011968Feeding difficulties
Периодический (5–29%)14
HP:0002376Developmental regression
HP:0002384Focal impaired awareness seizure
HP:0002509Limb hypertonia
HP:0002540Inability to walk
HP:0007772Impaired smooth pursuit
HP:0008947Floppy infant
HP:0011198EEG with generalized epileptiform discharges
HP:0100704Cerebral visual impairment
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000218High palate
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0002069Bilateral tonic-clonic seizure
Очень редкий (1–4%)4
HP:0000396Overfolded helix
HP:0000767Pectus excavatum
HP:0002126Polymicrogyria
HP:0012448Delayed myelination
Исключён (0%)1
HP:0000252Microcephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 26 | 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)