| Disease ID | Source | Name | Description |
| 616975 | OMIM | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) | An autosomal dominant syndrome characterized by developmental delay, intellectual disability, brain anomalies, and neurological abnormalities including seizures, hypotonia, and behavioral problems such as autism spectrum disorders. Brain anomalies include abnormalities and/or thinning of the corpus callosum, diminished white matter volume, abnormal cerebellar vermis, and ventriculomegaly. Congenital defects of the eye, heart and genitourinary system are present in half of the patients. The disease may be caused by variants affecting the gene represented in this entry. |