Lissencephaly due to LIS1 mutation
ORPHA:95232DiseaseAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)3
HP:0001250Seizure
HP:0006891Thick cerebral cortex
HP:0012469Infantile spasms
Частый (30–79%)21
HP:0000253Progressive microcephaly
HP:0001273Abnormal corpus callosum morphology
HP:0001302Pachygyria
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002389Cavum septum pellucidum
HP:0002421Poor head control
HP:0002445Tetraplegia
HP:0002463Language impairment
HP:0007772Impaired smooth pursuit
HP:0008936Axial hypotonia
HP:0010850EEG with spike-wave complexes
HP:0010864Intellectual disability, severe
HP:0011968Feeding difficulties
HP:0012520Dilation of Virchow-Robin spaces
HP:0012758Neurodevelopmental delay
HP:0020191Anterior predominant thick cortex pachygyria
HP:0025336Delayed ability to sit
HP:0031882Agyria
HP:0032398Dysgyria
HP:0200134Epileptic encephalopathy
Периодический (5–29%)17
HP:0001256Intellectual disability, mild
HP:0001319Neonatal hypotonia
HP:0001561Polyhydramnios
HP:0002123Generalized myoclonic seizure
HP:0002179Opisthotonus
HP:0002187Intellectual disability, profound
HP:0002376Developmental regression
HP:0002384Focal impaired awareness seizure
HP:0002521Hypsarrhythmia
HP:0003265Neonatal hyperbilirubinemia
HP:0007270Atypical absence seizure
HP:0010818Generalized tonic seizure
HP:0010819Atonic seizure
HP:0011153Focal motor seizure
HP:0011201EEG with changes in voltage
HP:0011951Aspiration pneumonia
HP:0020189Posterior predominant thick cortex pachygyria
Очень редкий (1–4%)3
HP:0001320Cerebellar vermis hypoplasia
HP:0002478Progressive spastic quadriplegia
HP:0002650Scoliosis
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)