Bilateral perisylvian polymicrogyria
ORPHA:98889Clinical subtypeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SRPX2 | sushi repeat containing protein X-linked 2 | Candidate gene tested in | gene with protein product | 300642 |
| ADGRG1 | adhesion G protein-coupled receptor G1 | Disease-causing germline mutation(s) in | gene with protein product | 604110 |
| PI4KA | phosphatidylinositol 4-kinase alpha | Disease-causing germline mutation(s) in | gene with protein product | 600286 |
Фенотипы (HPO)49
Очень частый (80–99%)2
HP:0002269Abnormality of neuronal migration
HP:0032407Bilateral perisylvian polymicrogyria
Частый (30–79%)17
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001347Hyperreflexia
HP:0001371Flexion contracture
HP:0002392EEG with polyspike wave complexes
HP:0002463Language impairment
HP:0005684Distal arthrogryposis
HP:0007359Focal-onset seizure
HP:0008947Floppy infant
HP:0012014EEG with central focal spikes
HP:0012017EEG with parietal focal spikes
HP:0020190Perisylvian predominant thick cortex pachygyria
HP:0030319Weakness of facial musculature
Периодический (5–29%)30
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000453Choanal atresia
HP:0000639Nystagmus
HP:0000767Pectus excavatum
HP:0001260Dysarthria
HP:0001310Dysmetria
HP:0001320Cerebellar vermis hypoplasia
HP:0001349Facial diplegia
HP:0001511Intrauterine growth retardation
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002061Lower limb spasticity
HP:0002104Apnea
HP:0002307Drooling
HP:0002385Paraparesis
HP:0002509Limb hypertonia
HP:0002510Spastic tetraplegia
HP:0002835Aspiration
HP:0007024Pseudobulbar paralysis
HP:0007033Cerebellar dysplasia
HP:0007301Oromotor apraxia
HP:0010808Protruding tongue
HP:0011157Focal sensory seizure
HP:0011755Ectopic posterior pituitary
HP:0011968Feeding difficulties
HP:0012015EEG with frontal focal spikes
HP:0012469Infantile spasms
HP:0410011Abnormality of masticatory muscle
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)