Disease ID | Source | Name | Description |
618049 | OMIM | Parkinsonism-dystonia, infantile, 2 (PKDYS2) | An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. The disease is caused by variants affecting the gene represented in this entry. |