Bilateral polymicrogyria
ORPHA:268940Morphological anomalyAutosomal recessive, X-linked dominantInfancy, Neonatal
Фенотипы (HPO)44
Очень частый (80–99%)1
HP:0001250Seizure
Частый (30–79%)21
HP:0000565Esotropia
HP:0000750Delayed speech and language development
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001268Mental deterioration
HP:0001270Motor delay
HP:0001272Cerebellar atrophy
HP:0001285Spastic tetraparesis
HP:0002119Ventriculomegaly
HP:0002200Pseudobulbar signs
HP:0002342Intellectual disability, moderate
HP:0002463Language impairment
HP:0004302Functional motor deficit
HP:0007256Abnormal pyramidal sign
HP:0007359Focal-onset seizure
HP:0007362Aplasia/Hypoplasia of the brainstem
HP:0009878Cerebellar ataxia associated with quadrupedal gait
HP:0010522Dyslexia
HP:0011099Spastic hemiparesis
HP:0012429Aplasia/Hypoplasia of the cerebral white matter
HP:0100543Cognitive impairment
Периодический (5–29%)22
HP:0000154Wide mouth
HP:0000183Tongue muscle weakness
HP:0000256Macrocephaly
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0001260Dysarthria
HP:0001349Facial diplegia
HP:0001762Talipes equinovarus
HP:0002069Bilateral tonic-clonic seizure
HP:0002123Generalized myoclonic seizure
HP:0002197Generalized-onset seizure
HP:0002307Drooling
HP:0002804Arthrogryposis multiplex congenita
HP:00068184-layered lissencephaly
HP:0007024Pseudobulbar paralysis
HP:0011787Central hypothyroidism
HP:0011968Feeding difficulties
HP:0012469Infantile spasms
HP:0012650Perisylvian polymicrogyria
HP:0410011Abnormality of masticatory muscle
HP:3000047Abnormal glossopharyngeal nerve morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)