Pelizaeus-Merzbacher disease in female carriers
ORPHA:280229· ICD-10 E75.2
Definition
Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Adult