EP300单抗不足所致Rubinstein-Taybi综合征
ORPHA:353284· ICD-10 Q87.2· Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal dominant
- 发病年龄
- Neonatal
ORPHA:353284· ICD-10 Q87.2· Rubinstein-Taybi syndrome due to EP300 haploinsufficiency