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Human Disease

CSF1R-related brain malformation and osteopetrosis

Term ID
DOID:0070343
Synonyms
  • osteoporosis and infantile neuroaxonal dystrophy
Definition
A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506793/
References
Ontology
Human Disease   ( DOID:0070343 )
Relationships
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Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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