点突变引起的神经发育障碍-颅面畸形-心脏缺陷-骨骼异常综合征
ORPHA:453504· ICD-10 Q87.8· Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal dominant, Not applicable
- 发病年龄
- Neonatal