| Disease ID | Source | Name | Description |
| 617862 | OMIM | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA) | An autosomal recessive neurodevelopmental disorder characterized by microcephaly, global developmental delay, hypotonia, intellectual disability, autistic features such as poor social interaction, language impairment and repetitive automatism behaviors, and generalized tonic-clonic seizures. Brain imaging shows cortical atrophy, thin corpus callosum, and cerebellar and brainstem atrophy. The disease is caused by variants affecting the gene represented in this entry. |