Unilateral focal polymicrogyria
ORPHA:268947Clinical subtypeAntenatal, Infancy, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)8
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001269Hemiparesis
HP:0002539Cortical dysplasia
HP:0011099Spastic hemiparesis
HP:0011153Focal motor seizure
HP:0100308Cerebral cortical hemiatrophy
Частый (30–79%)8
HP:0001256Intellectual disability, mild
HP:0001268Mental deterioration
HP:0002342Intellectual disability, moderate
HP:0007018Attention deficit hyperactivity disorder
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0007377Abnormality of somatosensory evoked potentials
HP:0012015EEG with frontal focal spikes
HP:0012018EEG with temporal focal spikes
Периодический (5–29%)13
HP:0000020Urinary incontinence
HP:0000718Aggressive behavior
HP:0000758Impaired use of nonverbal behaviors
HP:0001335Bimanual synkinesia
HP:0002354Memory impairment
HP:0002384Focal impaired awareness seizure
HP:0002463Language impairment
HP:0007010Poor fine motor coordination
HP:0007229Intracerebral periventricular calcifications
HP:0011171Simple febrile seizures
HP:0012014EEG with central focal spikes
HP:0012016EEG with occipital focal spikes
HP:0012017EEG with parietal focal spikes
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)