| Disease ID | Source | Name | Description |
| 618730 | OMIM | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) | An autosomal recessive neurodevelopmental disorder characterized by developmental delay, severe to profound intellectual disability, congenital microcephaly, cortical polymicrogyria, lissencephaly, reduced central white matter volume, and drug-resistant epilepsy, lack of speech, absent ambulation and a progressive neurodegenerative course in most patients. Early death may occur in some patients. The disease is caused by variants affecting the gene represented in this entry. |