赖氨酰羟化酶1缺乏所致脊柱后侧凸型Ehlers-Danlos syndrome
ORPHA:1900· ICD-10 Q79.6· Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- 患病率
- 1-9 / 100 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Infancy, Neonatal
ORPHA:1900· ICD-10 Q79.6· Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency