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Newfoundland cone-rod dystrophy

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Description

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.

MONDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

49

SEE THE VARIANTS →

Genes

  • RLBP1

External Links

  • OMIM

    607476

  • Orphanet
  • HPO
  • Medgen

    C1843815

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