| Disease ID | Source | Name | Description |
| 618646 | OMIM | Diencephalic-mesencephalic junction dysplasia syndrome 2 (DMJDS2) | An autosomal recessive neurodevelopmental disorder with onset at birth, characterized by severe global developmental delay, hypotonia, spastic tetraparesis, generalized dystonia and severe intellectual impairment. Brain imaging shows a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. The disease is caused by variants affecting the gene represented in this entry. |