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DO Term : adult-onset leukoencephalopathy with axonal spheroids and pigmented glia [DOID:0080523] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.
  • synonyms:
  • ORDO:313808,
  • hereditary diffuse leukoencephalopathy with spheroids,
  • GARD:10981,
  • 221820,
  • OMIM:221820
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