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Pelizaeus-Merzbacher disease
Summary
- Synonym
-
- HLD1
- Leukodystrophy, sudanophilic
- PMD
- Pelizaeus Merzbacher brain sclerosis
- Pelizaeus-Merzbacher brain sclerosis
- diffuse familial brain sclerosis
- hypomyelinating leukodystrophy 1
- sudanophilic leukodystrophy, Paelizeus-Merzbacher type
- 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.
- Super Class
- X-linked recessive disease hypomyelinating leukodystrophy
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20916 | Myelin-associated glycoprotein |
