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Х-зчеплена церебральна адренолейкодистрофія

ORPHA:139396· ICD-10 E71.3· X-linked cerebral adrenoleukodystrophy

Визначення(English summary)

A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.

Поширеність
Unknown
Успадкування
X-linked recessive
Вік початку
All ages