| Disease ID | Source | Name | Description |
| 617186 | OMIM | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 (PEBEL1) | An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. The disease is caused by variants affecting the gene represented in this entry. |