Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 262300 (trait) , 605080 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: This disorder had been initially renamed in OMIA on the basis of the review by Miyadera et al. (2012). In 2021, this phene was merged with Achromatopsia (cone degeneration, hemeralopia), AMAL (OMIA 001365-9615) and renamed 'Achromatopsia-3, CNGB3-related'.