3-甲基戊酸尿症7型
ORPHA:445038· ICD-10 E71.1· 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Antenatal, Neonatal
ORPHA:445038· ICD-10 E71.1· 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome