Pelizaeus-Merzbacher disease (Q1876206)

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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
  • Leukodystrophy, sudanophilic
  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus-Merzbacher disease (disorder)
  • HLD1
  • PMD
  • Pelizaeus-Merzbacher brain sclerosis
  • diffuse familial brain sclerosis
  • hypomyelinating leukodystrophy 1
  • sudanophilic leukodystrophy, Paelizeus-Merzbacher type
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English
Pelizaeus-Merzbacher disease
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
  • Leukodystrophy, sudanophilic
  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus-Merzbacher disease (disorder)
  • HLD1
  • PMD
  • Pelizaeus-Merzbacher brain sclerosis
  • diffuse familial brain sclerosis
  • hypomyelinating leukodystrophy 1
  • sudanophilic leukodystrophy, Paelizeus-Merzbacher type

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