Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
ORPHA:300570DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)79
Облигатный (100%)1
HP:0001250Seizure
Очень частый (80–99%)1
HP:0001263Global developmental delay
Частый (30–79%)27
HP:0000486Strabismus
HP:0000496Abnormality of eye movement
HP:0000565Esotropia
HP:0000639Nystagmus
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001321Cerebellar hypoplasia
HP:0001338Partial agenesis of the corpus callosum
HP:0001339Lissencephaly
HP:0001488Bilateral ptosis
HP:0002079Hypoplasia of the corpus callosum
HP:0002126Polymicrogyria
HP:0002194Delayed gross motor development
HP:0002334Abnormality of the cerebellar vermis
HP:0002365Hypoplasia of the brainstem
HP:0002465Poor speech
HP:0002474Expressive language delay
HP:0002497Spastic ataxia
HP:0002540Inability to walk
HP:0007260Type II lissencephaly
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
HP:0008936Axial hypotonia
HP:0009879Simplified gyral pattern
HP:0010862Delayed fine motor development
HP:0011344Severe global developmental delay
HP:0025336Delayed ability to sit
Периодический (5–29%)50
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000473Torticollis
HP:0000494Downslanted palpebral fissures
HP:0000570Abnormal saccadic eye movements
HP:0000572Visual loss
HP:0000609Optic nerve hypoplasia
HP:0000657Oculomotor apraxia
HP:0000712Emotional lability
HP:0000733Abnormal repetitive mannerisms
HP:0000736Short attention span
HP:0001260Dysarthria
HP:0001264Spastic diplegia
HP:0001320Cerebellar vermis hypoplasia
HP:0001332Dystonia
HP:0001357Plagiocephaly
HP:0001382Joint hypermobility
HP:0001491Congenital fibrosis of extraocular muscles
HP:0001773Short foot
HP:0001840Metatarsus adductus
HP:0002134Abnormality of the basal ganglia
HP:0002343Normal pressure hydrocephalus
HP:0002510Spastic tetraplegia
HP:0002751Kyphoscoliosis
HP:0002857Genu valgum
HP:0002943Thoracic scoliosis
HP:0002967Cubitus valgus
HP:0005216Impaired mastication
HP:0005469Flat occiput
HP:0006956Dilation of lateral ventricles
HP:0007048Large basal ganglia
HP:0007359Focal-onset seizure
HP:0008619Bilateral sensorineural hearing impairment
HP:0010663Abnormality of thalamus morphology
HP:0011451Congenital microcephaly
HP:0012332Abnormal autonomic nervous system physiology
HP:0012434Delayed social development
HP:0012697Small basal ganglia
HP:0012760Reduced social responsiveness
HP:0025101Dysgenesis of the hippocampus
HP:0030302Agenesis of the anterior commissure
HP:0030534Abnormal best corrected visual acuity test
HP:0030903Grasp reflex
HP:0040326Hypoplasia of the olfactory bulb
HP:0100785Insomnia
HP:0200055Small hand
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)