| Disease ID | Source | Name | Description |
| 135500 | OMIM | Zimmermann-Laband syndrome 1 (ZLS1) | 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. ZLS1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 611816 | OMIM | Temple-Baraitser syndrome (TMBTS) | A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry. |