谷氨酰胺合成酶缺乏所致脑发育不全
ORPHA:71278· ICD-10 E72.8· Congenital brain dysgenesis due to glutamine synthetase deficiency
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Infancy, Neonatal
ORPHA:71278· ICD-10 E72.8· Congenital brain dysgenesis due to glutamine synthetase deficiency