Term Name: | CSF1R-related brain malformation and osteopetrosis |
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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. |
Ontology: | Human Disease [DOID:0070343] ( DOID:0070343 ) |