RARS-related autosomal recessive hypomyelinating leukodystrophy
ORPHA:438114DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Частый (30–79%)20
HP:0000639Nystagmus
HP:0000817Reduced eye contact
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001310Dysmetria
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0002061Lower limb spasticity
HP:0002079Hypoplasia of the corpus callosum
HP:0002080Intention tremor
HP:0002421Poor head control
HP:0006808Cerebral hypomyelination
HP:0006895Lower limb hypertonia
HP:0007153Progressive extrapyramidal movement disorder
HP:0007281Developmental stagnation
HP:0008936Axial hypotonia
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)7
HP:0000252Microcephaly
HP:0002013Vomiting
HP:0002151Increased circulating lactate concentration
HP:0002506Diffuse cerebral atrophy
HP:0007024Pseudobulbar paralysis
HP:0007179Absent smooth pursuit
HP:0007359Focal-onset seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)