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Metadata
ID DOID:0080523
Name adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/27680516, https://www.ncbi.nlm.nih.gov/pubmed/28921817
Xrefs

GARD:10981

MIM:221820

ORDO:313808

Subsets

DO_rare_slim

Synonyms

hereditary diffuse leukoencephalopathy with spheroids [EXACT]

Parent Relationships

is_a leukodystrophy

is_a autosomal dominant disease

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