Disease ID | Source | Name | Description |
616921 | OMIM | Dyskinesia, limb and orofacial, infantile-onset (IOLOD) | An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable. The disease is caused by variants affecting the gene represented in this entry. |
616922 | OMIM | Striatal degeneration, autosomal dominant 2 (ADSD2) | An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis. The disease is caused by variants affecting the gene represented in this entry. |