| Disease ID | Source | Name | Description |
| 617616 | OMIM | Skraban-Deardorff syndrome (SKDEAS) | An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. The disease is caused by variants affecting the gene represented in this entry. |