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Definition

A X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay.

Acronym

HLD1

Synonyms

Brain sclerosis diffuse familial
Pelizaeus-Merzbacher brain sclerosis
Pelizaeus-Merzbacher disease
PMD
Sudanophilic leukodystrophy Paelizeus-Merzbacher type

Keywords

Leukodystrophy

 
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