Polymicrogyria due to TUBB2B mutation
ORPHA:300573Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)3
HP:0002126Polymicrogyria
HP:0002539Cortical dysplasia
HP:0100543Cognitive impairment
Частый (30–79%)4
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001269Hemiparesis
Периодический (5–29%)20
HP:0000486Strabismus
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001273Abnormal corpus callosum morphology
HP:0001302Pachygyria
HP:0002079Hypoplasia of the corpus callosum
HP:0002282Gray matter heterotopia
HP:0002339Abnormal caudate nucleus morphology
HP:0002363Abnormal brainstem morphology
HP:0002389Cavum septum pellucidum
HP:0006956Dilation of lateral ventricles
HP:0007018Attention deficit hyperactivity disorder
HP:0007301Oromotor apraxia
HP:0007359Focal-onset seizure
HP:0008947Floppy infant
HP:0012110Hypoplasia of the pons
HP:0012377Hemianopia
HP:0012650Perisylvian polymicrogyria
HP:0025102Dysgenesis of the basal ganglia
HP:0025160Abnormal temper tantrums
Очень редкий (1–4%)3
HP:0001274Agenesis of corpus callosum
HP:0001339Lissencephaly
HP:0010636Schizencephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 36 | 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)