| Metadata | |
|---|---|
| ID | DOID:0070343 |
| Name | CSF1R-related brain malformation and osteopetrosis |
| 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/articles/PMC6506793/ |
| Xrefs | |
| Synonyms |
osteoporosis and infantile neuroaxonal dystrophy [EXACT] |
| Parent Relationships |