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GTR Home > Conditions/Phenotypes > Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

Summary

Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is characterized by onset of hearing impairment and reduced vision within the first 5 years of life. Renal dysfunction results in rickets-like skeletal changes, and death may occur in childhood or young adulthood due to renal failure (Beighton et al., 1993). [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MTDPS8A, MTDPS8B, P53R2, RCDFRD, RRM2B
    Summary: ribonucleotide reductase regulatory TP53 inducible subunit M2B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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