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.