| Disease ID | Source | Name | Description |
| 618404 | OMIM | Leukodystrophy, hypomyelinating, 18 (HLD18) | An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive. The disease is caused by variants affecting the gene represented in this entry. |