Rare Disease Library

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease, classic form

Classic PMD

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

Pelizaeus-Merzbacher disease, transitional form

Transitional PMD

Pelizaeus-Merzbacher-like disease

PMLD

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

PMLD1

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy