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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00907 |
Kleefstra syndrome Chromosome 9q34.3 deletion syndrome 9q Subtelomeric deletion syndrome |
... syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation. Recently, a few patients with loss of function mutations affecting the histone methyltransferase KMT2C were reported. | Congenital malformation |
(KLEFS1) EHMT1 [HSA:79813] [KO:K11420] (KLEFS2) KMT2C [HSA:58508] [KO:K09188] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |