Bilateral parasagittal parieto-occipital polymicrogyria
ORPHA:208441Clinical subtypeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0002194Delayed gross motor development
HP:0002539Cortical dysplasia
HP:0010862Delayed fine motor development
Частый (30–79%)5
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002069Bilateral tonic-clonic seizure
Периодический (5–29%)20
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000718Aggressive behavior
HP:0000951Abnormality of the skin
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001345Psychotic mentation
HP:0001999Abnormal facial shape
HP:0002367Visual hallucinations
HP:0002384Focal impaired awareness seizure
HP:0007024Pseudobulbar paralysis
HP:0008765Auditory hallucinations
HP:0011297Abnormal digit morphology
HP:0031258Delirium
HP:0031589Suicidal ideation
HP:0100852Abnormal fear/anxiety-related behavior
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)