The main associations found in the literature are related to Eg5 expression and AD, microcephaly conditions (in particular, a specific condition characterized by microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, MCLID), and retinopathies (including familial exudative vitreous retinopathy, FEVR), even if additional pathological situations are reported in which Eg5 emerged. Here, KIF11 is linked to Intellectual disability.