| Disease ID | Source | Name | Description |
| 617613 | OMIM | Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) | An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise. The disease is caused by variants affecting the gene represented in this entry. |