DYNC1H1基因相关的常染色体显性遗传儿童期起病的近端脊髓性肌萎缩症
ORPHA:209341· ICD-10 G12.1· DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal dominant
- 发病年龄
- Adult, Antenatal, Childhood, Infancy, Neonatal
ORPHA:209341· ICD-10 G12.1· DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy