墨喋呤还原酶缺乏所致多巴反应性肌张力障碍
ORPHA:70594· ICD-10 G24.1· Dopa-responsive dystonia due to sepiapterin reductase deficiency
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Infancy, Neonatal
ORPHA:70594· ICD-10 G24.1· Dopa-responsive dystonia due to sepiapterin reductase deficiency