Bilateral frontoparietal polymicrogyria
ORPHA:101070Clinical subtypeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)7
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001270Motor delay
HP:0002119Ventriculomegaly
HP:0002539Cortical dysplasia
HP:0007033Cerebellar dysplasia
HP:0007266Cerebral dysmyelination
Частый (30–79%)10
HP:0000565Esotropia
HP:0001263Global developmental delay
HP:0001317Abnormal cerebellum morphology
HP:0001320Cerebellar vermis hypoplasia
HP:0002141Gait imbalance
HP:0002463Language impairment
HP:0007256Abnormal pyramidal sign
HP:0010864Intellectual disability, severe
HP:0012110Hypoplasia of the pons
HP:0025190Bilateral tonic-clonic seizure with generalized onset
Периодический (5–29%)7
HP:0000252Microcephaly
HP:0000486Strabismus
HP:0002123Generalized myoclonic seizure
HP:0002365Hypoplasia of the brainstem
HP:0010819Atonic seizure
HP:0011147Typical absence seizure
HP:0040194Increased head circumference
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)