| Disease ID | Source | Name | Description |
| 618367 | OMIM | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) | An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy. The disease is caused by variants affecting the gene represented in this entry. |