| Disease ID | Source | Name | Description |
| 616881 | OMIM | Leukodystrophy, hypomyelinating, 13 (HLD13) | An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment. The disease is caused by variants affecting the gene represented in this entry. |