Disease ID | Source | Name | Description |
607313 | OMIM | Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) | An autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth, childhood-onset progressive scoliosis, distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways. The disease is caused by variants affecting the gene represented in this entry. |