Disease ID | Source | Name | Description |
618497 | OMIM | Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements (NEDNEH) | An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life. The disease may be caused by variants affecting the gene represented in this entry. |