Variants
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Autosomal recessive nonsyndromic hearing loss 12

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Description

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.

MONDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

452

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Genes

External Links

  • OMIM

    601386

  • Orphanet
  • HPO
  • Medgen

    C1832394

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