Muscle-eye-brain disease with bilateral multicystic leucodystrophy
ORPHA:370997DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)23
Частый (30–79%)19
HP:0001320Cerebellar vermis hypoplasia
HP:0001344Absent speech
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002126Polymicrogyria
HP:0002350Cerebellar cyst
HP:0002363Abnormal brainstem morphology
HP:0002415Leukodystrophy
HP:0002421Poor head control
HP:0003236Elevated circulating creatine kinase concentration
HP:0007361Abnormality of the pons
HP:0008947Floppy infant
HP:0010864Intellectual disability, severe
HP:0011197EEG with focal spike waves
HP:0011344Severe global developmental delay
HP:0025336Delayed ability to sit
HP:0030046Hypoglycosylation of alpha-dystroglycan
HP:0031882Agyria
HP:0031936Delayed ability to walk
Периодический (5–29%)4
HP:0000518Cataract
HP:0000556Retinal dystrophy
HP:0000557Buphthalmos
HP:0011003High myopia
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)