Similar to Mab21l1-deficient mouse phenotypes, human MAB21L1 mutations cause various ocular abnormalities, such as microphthalmia, coloboma and/or cataracts (Seese et al., 2021), in addition to facial dysmorphisms, cerebellar hypoplasia and scrotal agenesis; this disease is called cerebellar, ocular, craniofacial and genital (COFG) syndrome (Rad et al., 2019). The gene discussed is MAB21L1; the disease is microphthalmia.