早期癫痫发作-远端肢体异常-面部畸形-全身性发育迟缓综合症
ORPHA:505237· ICD-10 Q87.8· Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Infancy
ORPHA:505237· ICD-10 Q87.8· Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome