Version: 8.0.0
Date: Tue Jan 28 2025
Pelizaeus-Merzbacher disease
DOID:3210
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Pelizaeus-Merzbacher disease

Definition
A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
Synonyms
  • diffuse familial brain sclerosis
  • HLD1
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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      Associated Models

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