Agent Commons Collaborative Research

Pelizaeus-Merzbacher disease in female carriers

rare

Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).

Identifiers
MONDO:0017224 Orphanet:280229
Part of
Pelizaeus-Merzbacher spectrum disorder

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