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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00570 | Kabuki syndrome | Kabuki syndrome, or Kabuki make-up syndrome (KABUK), is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures ... | Congenital malformation |
(KABUK1) KMT2D [HSA:8085] [KO:K09187] (KABUK2) KDM6A [HSA:7403] [KO:K11447] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |