Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is a rare autosomal recessive syndrome affecting kidneys, eyes, and ears. It has been reported that mutations in RRM2B cause this syndrome. RRM2B encodes a subunit of ribonucleotide reductase, playing an essential role in dNTP supply for DNA replication and repair, and mitochondrial DNA synthesis.
