| Disease ID | Source | Name | Description |
| 617807 | OMIM | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) | An autosomal dominant neurodevelopmental disorder apparent in infancy and characterized by severe intellectual disability with absent speech, epilepsy, and hypotonia. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly can be present. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem. The disease is caused by variants affecting the gene represented in this entry. |