Variants
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Autosomal recessive nonsyndromic hearing loss 28

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Description

An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.

NCI

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

49

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Genes

External Links

  • OMIM

    609823

  • Orphanet
  • HPO
  • Medgen

    C1853276

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