CSF1R-related brain malformation and osteopetrosis (DOID:0070343)
Alliance: disease page
Synonyms: osteoporosis and infantile neuroaxonal dystrophy
Alt IDs: OMIM:600329
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.