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CSF1R-related brain malformation and osteopetrosis
Summary
- Synonym
-
- 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.
- Super Class
- neuroaxonal dystrophy
External Links
- Disease Ontology
- DOID:0070343
- Mondo Disease Ontology
- OMIM
Related Genes
