| Disease ID | Source | Name | Description |
| 618748 | OMIM | Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) | An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding. The disease is caused by variants affecting the gene represented in this entry. |