| Term Name: | CSF1R-related brain malformation and osteopetrosis |
|---|---|
| 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 ) |