Deficit metylentetrahydrofolátdehydrogenázy 1
ORPHA:658813· ICD-10 E88.8· Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy