3-metilglutakonik asidüri tip 7
ORPHA:445038· ICD-10 E71.1· 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Yaygınlık
- <1 / 1 000 000
- Kalıtım
- Autosomal recessive
- Başlangıç yaşı
- Antenatal, Neonatal
ORPHA:445038· ICD-10 E71.1· 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome