Early-onset epilepsy-intellectual disability-brain anomalies syndrome
ORPHA:488635DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)3
HP:0001250Seizure
HP:0001252Hypotonia
HP:0011344Severe global developmental delay
Частый (30–79%)11
HP:0000750Delayed speech and language development
HP:0001265Hyporeflexia
HP:0001321Cerebellar hypoplasia
HP:0001382Joint hypermobility
HP:0001510Growth delay
HP:0001999Abnormal facial shape
HP:0002066Gait ataxia
HP:0002079Hypoplasia of the corpus callosum
HP:0002141Gait imbalance
HP:0030047Abnormality of lateral ventricle
HP:0031936Delayed ability to walk
Периодический (5–29%)19
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000445Wide nose
HP:0000540Hypermetropia
HP:0000729Autistic behavior
HP:0001187Hyperextensibility of the finger joints
HP:0001272Cerebellar atrophy
HP:0001344Absent speech
HP:0001511Intrauterine growth retardation
HP:0001763Pes planus
HP:0002069Bilateral tonic-clonic seizure
HP:0002329Drowsiness
HP:0003394Muscle spasm
HP:0005280Depressed nasal bridge
HP:0007258Severe demyelination of the white matter
HP:0008081Pes valgus
HP:0010510Hypermobility of toe joints
HP:0011193EEG with focal spikes
HP:0011968Feeding difficulties
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)