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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01008 |
C syndrome Opitz trigonocephaly syndrome |
... unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. The C syndrome is caused by mutations in CD96, a member of the immunoglobulin superfamily. | Congenital malformation | CD96 [HSA:10225] [KO:K06517] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |