| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://www.omim.org/entry/221820 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Hereditary diffuse leukoencephalopathy with spheroids phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| CSF1R | colony stimulating factor 1 receptor |
