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