| Disease ID | Source | Name | Description |
| 618658 | OMIM | Zimmermann-Laband syndrome 3 (ZLS3) | 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. ZLS3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |