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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02650 | Menke-Hennekam syndrome | Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the ... | Congenital malformation |
(MKHK1) CREBBP [HSA:1387] [KO:K04498] (MKHK2) EP300 [HSA:2033] [KO:K04498] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |