| Disease ID | Source | Name | Description |
| 613680 | OMIM | Beaulieu-Boycott-Innes syndrome (BBIS) | An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. The disease is caused by variants affecting the gene represented in this entry. |