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Нейродегенерація, асоційована з бета-пропелерним протеїном

ORPHA:329284· ICD-10 G23.0· Beta-propeller protein-associated neurodegeneration

Визначення(English summary)

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

Поширеність
<1 / 1 000 000
Успадкування
X-linked dominant
Вік початку
Childhood