Subependymal nodular heterotopia
ORPHA:101030Clinical subtypeAntenatal, Infancy, Neonatal
Фенотипы (HPO)23
Частый (30–79%)12
HP:0001250Seizure
HP:0002085Occipital encephalocele
HP:0002126Polymicrogyria
HP:0002269Abnormality of neuronal migration
HP:0002282Gray matter heterotopia
HP:0002349Focal aware seizure
HP:0003330Abnormal bone structure
HP:0007359Focal-onset seizure
HP:0011818Nasofrontal encephalocele
HP:0032046Focal cortical dysplasia
HP:0045084Limb myoclonus
HP:0430005Abnormality of ethmoid bone
Периодический (5–29%)11
HP:0000290Abnormality of the forehead
HP:0001338Partial agenesis of the corpus callosum
HP:0002057Prominent glabella
HP:0002367Visual hallucinations
HP:0002435Meningocele
HP:0002475Myelomeningocele
HP:0011195EEG with focal sharp slow waves
HP:0012013EEG with temporal focal spike waves
HP:0025373Interictal EEG abnormality
HP:0031006Acroparesthesia
HP:0100022Abnormality of movement
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)