Up to now, it is acknowledged that 6 pathogenic genes are associated with FEVR, including LRP5 (Autosomal recessive or scattered inheritance gene), FZD4 and TSPAN12 (Autosomal dominant or recessive gene), ZNF408 (Autosomal dominant gene), NDP (X-Linked recessive gene) and KIF11 which was found recently and was related to the microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome. The gene discussed is TSPAN12; the disease is microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability.