| Disease ID | Source | Name | Description |
| 617951 | OMIM | Leukodystrophy, hypomyelinating, 15 (HLD15) | An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with thinning of the corpus callosum. Clinical features include motor and cognitive impairment appearing in the first or second decade of life, dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. The disease may be caused by variants affecting the gene represented in this entry. |