Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Zha C, Farah CA, Holt RJ, Ceroni F, Al-Abdi L, Thuriot F, Khan AO, Helaby R, Lévesque S, Alkuraya FS, et al. Hum Mol Genet. 2020 Nov 4; 29(18):3054-3063.