先天性阴囊发育不全-小脑畸形-角膜营养不良-面部畸形综合征
ORPHA:495875· ICD-10 Q87.8· Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Neonatal
ORPHA:495875· ICD-10 Q87.8· Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome