Sub-cortical nodular heterotopia
ORPHA:101029Clinical subtypeAntenatal, Infancy, Neonatal
Фенотипы (HPO)15
Очень частый (80–99%)4
HP:0001250Seizure
HP:0002269Abnormality of neuronal migration
HP:0002538Abnormality of the cerebral cortex
HP:0032391Subcortical heterotopia
Частый (30–79%)8
HP:0001257Spasticity
HP:0001324Muscle weakness
HP:0001328Specific learning disability
HP:0001347Hyperreflexia
HP:0002126Polymicrogyria
HP:0002699Abnormality of the foramen magnum
HP:0010843EEG with focal slow activity
HP:0011193EEG with focal spikes
Периодический (5–29%)3
HP:0001274Agenesis of corpus callosum
HP:0002079Hypoplasia of the corpus callosum
HP:0002134Abnormality of the basal ganglia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)