Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01568 |
3C syndrome Ritscher-Schinzel syndrome Craniocerebellocardiac dysplasia |
... protein strumpellin as causal to a form of 3C syndrome. Another study showed that a missense variant in CCDC22 is associated with a form of X-linked intellectual disability with features of 3C syndrome. | Congenital malformation |
(RTSC1) WASHC5 [HSA:9897] [KO:K18464] (RTSC2) CCDC22 [HSA:28952] [KO:K23343] (RTSC3) VPS35L [HSA:57020] [KO:K25731] (RTSC4) DPYSL5 [HSA:56896] [KO:K07529] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |