色素性视网膜炎-听力障碍-早衰-身材矮小-面部畸形综合征
ORPHA:494439· ICD-10 Q87.8· Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Childhood, Infancy
ORPHA:494439· ICD-10 Q87.8· Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome