Autosomal recessive cerebelloparenchymal disorder type 3
ORPHA:1170DiseaseAutosomal recessiveAdolescent, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)9
HP:0000640Gaze-evoked nystagmus
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001310Dysmetria
HP:0002066Gait ataxia
HP:0031936Delayed ability to walk
Частый (30–79%)11
HP:0000657Oculomotor apraxia
HP:0001252Hypotonia
HP:0001272Cerebellar atrophy
HP:0001324Muscle weakness
HP:0001348Brisk reflexes
HP:0001763Pes planus
HP:0002275Poor motor coordination
HP:0002506Diffuse cerebral atrophy
HP:0006855Cerebellar vermis atrophy
HP:0007272Progressive psychomotor deterioration
HP:0100543Cognitive impairment
Периодический (5–29%)9
HP:0000602Ophthalmoplegia
HP:0001257Spasticity
HP:0001337Tremor
HP:0002198Dilated fourth ventricle
HP:0002280Enlarged cisterna magna
HP:0003128Lactic acidosis
HP:0004322Short stature
HP:0009830Peripheral neuropathy
HP:0010794Impaired visuospatial constructive cognition
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)