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 )

Relationships
is a type of: neuroaxonal dystrophy