Condition: Lymphedema, microcephaly and chorioretinopathy syndrome
rs1064796738 in
KIF11 gene and
Lymphedema, microcephaly and chorioretinopathy syndrome
PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
PMID 22284827 2012 Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.