Disease ID | Source | Name | Description |
618425 | OMIM | Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) | An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some patients develop seizures. The disease is caused by variants affecting the gene represented in this entry. |