| Disease ID | Source | Name | Description |
| 612951 | OMIM | Leukoencephalopathy, cystic, without megalencephaly (LCWM) | An infantile-onset syndrome of cerebral leukoencephalopathy. Affected newborns develop microcephaly and neurologic abnormalities including psychomotor impairment, seizures and sensorineural hearing impairment. The brain shows multifocal white matter lesions, anterior temporal lobe subcortical cysts, pericystic abnormal myelination, ventriculomegaly and intracranial calcifications. The disease is caused by variants affecting the gene represented in this entry. |