| Disease ID | Source | Name | Description |
| 617412 | OMIM | Brachycephaly, trichomegaly, and developmental delay (BTDD) | An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients. The disease is caused by variants affecting the gene represented in this entry. |