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