3-methylglutakonová acidurie, typ 7
ORPHA:445038· ICD-10 E71.1· 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Antenatal, Neonatal