Microphthalmia, syndromic 12 (MCOPS12)

Microphthalmia, syndromic 12 (MCOPS12) is an ultra-rare and complex neurological disease. It is caused by a single-point missense mutation in the retinoic acid receptor beta (RARB) gene.

Source: Wikipedia — Microphthalmia, syndromic 12 (MCOPS12) (CC BY-SA 4.0)