Intellectual disability-epilepsy-extrapyramidal syndrome
ORPHA:468620DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)6
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0002019Constipation
HP:0002360Sleep abnormality
HP:0011344Severe global developmental delay
HP:0410263Brain imaging abnormality
Частый (30–79%)12
HP:0000252Microcephaly
HP:0000712Emotional lability
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0002066Gait ataxia
HP:0002136Broad-based gait
HP:0002376Developmental regression
HP:0002719Recurrent infections
HP:0008947Floppy infant
HP:0010832Abnormality of pain sensation
HP:0011968Feeding difficulties
HP:0030051Tip-toe gait
Периодический (5–29%)12
HP:0000256Macrocephaly
HP:0000713Agitation
HP:0000729Autistic behavior
HP:0001250Seizure
HP:0001344Absent speech
HP:0002133Status epilepticus
HP:0002141Gait imbalance
HP:0002307Drooling
HP:0002312Clumsiness
HP:0002317Unsteady gait
HP:0002515Waddling gait
HP:0004305Involuntary movements
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)