Bilateral generalized polymicrogyria
ORPHA:208447Clinical subtypeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)3
HP:0002194Delayed gross motor development
HP:0012736Profound global developmental delay
HP:0031936Delayed ability to walk
Частый (30–79%)11
HP:0000708Atypical behavior
HP:0000733Abnormal repetitive mannerisms
HP:0001257Spasticity
HP:0002197Generalized-onset seizure
HP:0002300Mutism
HP:0002510Spastic tetraplegia
HP:0008936Axial hypotonia
HP:0010864Intellectual disability, severe
HP:0011968Feeding difficulties
HP:0100022Abnormality of movement
HP:0100704Cerebral visual impairment
Периодический (5–29%)36
HP:0000252Microcephaly
HP:0000729Autistic behavior
HP:0001256Intellectual disability, mild
HP:0001332Dystonia
HP:0001510Growth delay
HP:0002020Gastroesophageal reflux
HP:0002069Bilateral tonic-clonic seizure
HP:0002079Hypoplasia of the corpus callosum
HP:0002123Generalized myoclonic seizure
HP:0002133Status epilepticus
HP:0002187Intellectual disability, profound
HP:0002342Intellectual disability, moderate
HP:0002360Sleep abnormality
HP:0004322Short stature
HP:0005216Impaired mastication
HP:0006956Dilation of lateral ventricles
HP:0007166Paroxysmal dyskinesia
HP:0007204Diffuse white matter abnormalities
HP:0007359Focal-onset seizure
HP:0007824Total ophthalmoplegia
HP:0010553Oculogyric crisis
HP:0010818Generalized tonic seizure
HP:0010819Atonic seizure
HP:0010821Focal emotional seizure with laughing
HP:0011147Typical absence seizure
HP:0011153Focal motor seizure
HP:0011344Severe global developmental delay
HP:0012469Infantile spasms
HP:0012704Widened subarachnoid space
HP:0025097Eyelid myoclonus
HP:0025100Abnormal hippocampus morphology
HP:0025517Hypoplastic hippocampus
HP:0040288Nasogastric tube feeding
HP:0100660Dyskinesia
HP:0100716Self-injurious behavior
HP:0200136Oral-pharyngeal dysphagia
Очень редкий (1–4%)1
HP:0002376Developmental regression
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)