|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. (Orphanet Rare Disease Ontology, Orphanet_313808)|
|Downloads & Tools|
1 genes associated with the Hereditary diffuse leukoencephalopathy with spheroids phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|CSF1R||colony stimulating factor 1 receptor|