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Pelizaeus-Merzbacher spectrum disorder
rareAn 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.
- Identifiers
- MONDO:0010714 OMIM:312080Orphanet:702
- Causal genes
- PLP1
- Part of
- Leukodystrophy
- Also known as
- diffuse familial brain sclerosis · HLD1 · Pelizaeus Merzbacher disease · Pelizaeus-Merzbacher brain sclerosis · Pelizaeus-Merzbacher disease
Subtypes
Projects
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