Split-Hand/foot Malformation 5 (SHFM5)

Split-Hand/foot Malformation 5, also known as split hand-foot malformation 5, is related to chromosome 2q35 duplication syndrome and split hand-foot malformation. An important gene associated with Split-Hand/foot Malformation 5 is SHFM5 (Split Hand/Foot Malformation (Ectrodactyly) Type 5), and among its related pathways/superpathways are MECP2 and associated Rett syndrome and Validated transcriptional targets of deltaNp63 isoforms. Affiliated tissues include bone and eye, and related phenotype is limbs/digits/tail.