Orphanet: VPS11 related autosomal recessive hypomyelinating leukodystrophy

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VPS11-related autosomal recessive hypomyelinating leukodystrophy

Disease definition

A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.


Classification level: Disorder
  • Synonym(s):
    • VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E75.2
  • OMIM: 616683
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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