Variants
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Autosomal recessive nonsyndromic hearing loss 48

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Description

DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

5

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Genes

External Links

  • OMIM

    609439

  • Orphanet
  • HPO
  • Medgen

    C1836199

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