Condition: 3C syndrome


rs1462319941 in WASHC5 gene and 3C syndrome PMID 24065355 2013 A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

PMID 17160902 2007 Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.