| Disease ID | Source | Name | Description |
| 124480 | OMIM | Deafness, congenital, with onychodystrophy, autosomal dominant (DDOD) | An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients. The disease is caused by variants affecting the gene represented in this entry. |
| 616455 | OMIM | Zimmermann-Laband syndrome 2 (ZLS2) | A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |