| Disease ID | Source | Name | Description |
| 617333 | OMIM | Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) | An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. The disease is caused by variants affecting the gene represented in this entry. |