| Disease ID | Source | Name | Description |
| 618454 | OMIM | Developmental delay with or without dysmorphic facies and autism (DEDDFA) | An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood. Some patients present with intellectual disability and renal, cardiac, genitourinary systems, as well as structural brain abnormalities. In some cases, the phenotype is less severe, has no systemic involvement and is characterized by autism spectrum disorder and/or intellectual disability, sometimes associated with epilepsy. Affected individuals manifest variable dysmorphic features. The disease is caused by variants affecting the gene represented in this entry. |
| 618778 | OMIM | Deafness, autosomal dominant, 75 (DFNA75) | A form of non-syndromic deafness characterized by late-onset hearing loss that involves mid and high frequencies, and progresses to encompass all frequencies. The disease may be caused by variants affecting the gene represented in this entry. |