| Disease ID | Source | Name | Description |
| 260600 | OMIM | Leukodystrophy, hypomyelinating, 3 (HLD3) | A severe autosomal recessive hypomyelinating leukodystrophy characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. The disease is caused by variants affecting the gene represented in this entry. |