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Entry Name Description Category Pathway Gene
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]
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