Unilateral polymicrogyria
ORPHA:268943Morphological anomalyInfancy, Neonatal
Фенотипы (HPO)37
Частый (30–79%)8
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001269Hemiparesis
HP:0002510Spastic tetraplegia
HP:0002539Cortical dysplasia
HP:0007010Poor fine motor coordination
HP:0007024Pseudobulbar paralysis
HP:0010818Generalized tonic seizure
Периодический (5–29%)25
HP:0000421Epistaxis
HP:0000505Visual impairment
HP:0000565Esotropia
HP:0000750Delayed speech and language development
HP:0000961Cyanosis
HP:0001256Intellectual disability, mild
HP:0001270Motor delay
HP:0001297Stroke
HP:0001312Giant somatosensory evoked potentials
HP:0001336Myoclonus
HP:0001999Abnormal facial shape
HP:0002104Apnea
HP:0002133Status epilepticus
HP:0002384Focal impaired awareness seizure
HP:0002421Poor head control
HP:0002533Abnormal posturing
HP:0004305Involuntary movements
HP:0006548Pulmonary arteriovenous malformation
HP:0007359Focal-onset seizure
HP:0008610Infantile sensorineural hearing impairment
HP:0008936Axial hypotonia
HP:0011344Severe global developmental delay
HP:0012389Appendicular hypotonia
HP:0012469Infantile spasms
HP:0012650Perisylvian polymicrogyria
Очень редкий (1–4%)4
HP:0000252Microcephaly
HP:0001335Bimanual synkinesia
HP:0001627Abnormal heart morphology
HP:0040288Nasogastric tube feeding
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)