点突变所致PURA相关性严重新生儿肌张力低下-癫痫-脑病综合征
ORPHA:438216· ICD-10 G40.4· PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal dominant, Not applicable
- 发病年龄
- Infancy, Neonatal
ORPHA:438216· ICD-10 G40.4· PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation