Disease ID | Source | Name | Description |
616140 | OMIM | Leukodystrophy, hypomyelinating, 9 (HLD9) | An autosomal recessive neurodegenerative disorder characterized by delayed psychomotor development, severe spasticity, nystagmus, and ataxia associated with diffuse hypomyelination apparent on brain MRI. The disease is caused by variants affecting the gene represented in this entry. |