Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
ORPHA:3240DiseaseAutosomal recessiveNo data available
Ассоциированные гены1
Фенотипы (HPO)23
Частый (30–79%)17
HP:0001047Atopic dermatitis
HP:0001250Seizure
HP:0001321Cerebellar hypoplasia
HP:0001344Absent speech
HP:0001347Hyperreflexia
HP:0001510Growth delay
HP:0002171Gliosis
HP:0002376Developmental regression
HP:0002506Diffuse cerebral atrophy
HP:0002510Spastic tetraplegia
HP:0002599Head titubation
HP:0003281Increased circulating ferritin concentration
HP:0004463Absent brainstem auditory responses
HP:0004840Hypochromic microcytic anemia
HP:0007346Subcortical white matter calcifications
HP:0008568Vestibular areflexia
HP:0008936Axial hypotonia
Периодический (5–29%)4
HP:0001873Thrombocytopenia
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002878Respiratory failure
Исключён (0%)2
HP:0001332Dystonia
HP:0011002Osteopetrosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)