| Disease ID | Source | Name | Description |
| 618430 | OMIM | Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) | An autosomal dominant disorder characterized by impaired intellectual development with speech difficulties, dysmorphic features, and behavioral abnormalities including autism spectrum disorder, attention deficit and hyperactivity. Additional variable features may include hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The disease is caused by variants affecting the gene represented in this entry. |