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Dilated cardiomyopathy 1J

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Description

Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

244

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Genes

External Links

  • OMIM

    605362

  • Orphanet

    217622

  • HPO
  • Medgen

    C1854368

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