| Disease ID | Source | Name | Description |
| 611105 | OMIM | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. The disease is caused by variants affecting the gene represented in this entry. |