| Disease ID | Source | Name | Description |
| 618492 | OMIM | Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) | An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia. The disease may be caused by variants affecting the gene represented in this entry. |