| Disease ID | Source | Name | Description |
| 251280 | OMIM | Diencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1) | An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications. The disease is caused by variants affecting the gene represented in this entry. |