Furthermore, similar to the phenotype observed in Wdr11-knockout mice, individuals with WDR11 biallelic loss-of-function variants showed i.a. anomalies of the visual (strabism, visual defects, nystagmus, optic neuropathy) and skeletal (brachydactyly, fifth finger clinodactyly, kyphoscoliosis, narrow chest, high arched palate and (micro-)retrognathia) system. This evidence concerns the gene WDR11 and Optic neuropathy.