Kleefstra syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| KLEEFSTRA SYNDROME 2 | C4540395 | KMT2C | 29069077, 22726846, 29276005 |
| KLEEFSTRA SYNDROME 1 | C0795833 | EHMT1 | 16826528, 27651234, 24362066, 28742076, 22670141, 27767173, 28361100, 29554304, 23175442, 19264732, 25081361, 26633545 |
| Kleefstra syndrome | C4551771 | EHMT1 | |
| Kleefstra syndrome due to a point mutation | 261652 | KMT2C | |
| EHMT1 | |||
| Kleefstra syndrome due to 9q34 microdeletion | 96147 | EHMT1 |