| Label | Id | |
|---|---|---|
| facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 32714 | |
| combined oxidative phosphorylation deficiency 38 | 32712 | |
| leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 32716 | |
| frontonasal dysplasia type 3 | 13271 | |
| amelogenesis imperfecta, type 3c | 32717 |