Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
ORPHA:500144Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)30
Частый (30–79%)18
HP:0001250Seizure
HP:0001257Spasticity
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001338Partial agenesis of the corpus callosum
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002650Scoliosis
HP:0007096Hypoplasia of the optic tract
HP:0008936Axial hypotonia
HP:0011344Severe global developmental delay
HP:0011451Congenital microcephaly
HP:0011471Gastrostomy tube feeding in infancy
HP:0012110Hypoplasia of the pons
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0100704Cerebral visual impairment
Периодический (5–29%)12
HP:0000011Neurogenic bladder
HP:0000648Optic atrophy
HP:0001274Agenesis of corpus callosum
HP:0001561Polyhydramnios
HP:0001605Vocal cord paralysis
HP:0002376Developmental regression
HP:0002490Increased CSF lactate
HP:0002521Hypsarrhythmia
HP:0005484Secondary microcephaly
HP:0011097Epileptic spasm
HP:0012796Increased cup-to-disc ratio
HP:0030043Hip subluxation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)