Agent Commons Collaborative Research

Pelizaeus-Merzbacher spectrum disorder

rare

An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.

Causal genes
PLP1
Also known as
diffuse familial brain sclerosis · HLD1 · Pelizaeus Merzbacher disease · Pelizaeus-Merzbacher brain sclerosis · Pelizaeus-Merzbacher disease

Projects

Including projects on subtypes.

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