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Entry | Name | Description | Category | Pathway | Gene |
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H01568 |
3C syndrome Ritscher-Schinzel syndrome Craniocerebellocardiac dysplasia |
The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a rare, presumably autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ... | 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 ] |