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3-羟基异丁酰-辅酶A水解酶缺乏所致神经退行性病变

ORPHA:88639· ICD-10 E71.1· Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

患病率
<1 / 1 000 000
遗传方式
Autosomal recessive
发病年龄
Infancy