| Disease ID | Source | Name | Description |
| 616683 | OMIM | Leukodystrophy, hypomyelinating, 12 (HLD12) | An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination. The disease is caused by variants affecting the gene represented in this entry. |