| Disease ID | Source | Name | Description |
| 618687 | OMIM | Intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) | An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression. The disease is caused by variants affecting the gene represented in this entry. |