Condition: Schizencephaly


rs1555303073 in COL4A1 gene and Schizencephaly PMID 23225343 2013 Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

rs387906868 in SIX3;SIX3-AS1 gene and Schizencephaly PMID 20157829 2010 Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.