Pelizaeus-Merzbacher disease, connatal form
ORPHA:280210· ICD-10 E75.2
Definition
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal