| Disease ID | Source | Name | Description |
| 616920 | OMIM | Heart and brain malformation syndrome (HBMS) | An autosomal recessive syndrome characterized by multiple congenital anomalies such as cardiac defects, brain malformations, including cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy-Walker malformation, profoundly delayed psychomotor development, microphthalmia, and facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry. |