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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02585 | Roifman-Chitayat syndrome | ... dysmorphism, optic nerve atrophy, skeletal anomalies, myoclonic seizures, and substantial developmental delays. It has been reported that dual loss of PIK3CD and KNSTRN expression causes this syndrome. | Immune system disease |
PIK3CD [HSA:5293] [KO:K00922] KNSTRN [HSA:90417] [KO:K26097] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |