| Disease ID | Source | Name | Description |
| 614832 | OMIM | Amelogenesis imperfecta, hypomaturation type, 2A4 (AI2A4) | A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. The disease is caused by variants affecting the gene represented in this entry. |