| Disease ID | Source | Name | Description |
| 617542 | OMIM | Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development (HGPPS2) | An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis. The disease is caused by variants affecting the gene represented in this entry. |
| 157600 | OMIM | Mirror movements 1 (MRMV1) | A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry. |