| Disease ID | Source | Name | Description |
| 147920 | OMIM | Kabuki syndrome 1 (KABUK1) | A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. The disease is caused by variants affecting the gene represented in this entry. |