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autosomal dominant nonsyndromic hearing loss 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.

Synonyms

  • DFNA1
  • DIAPH1 autosomal dominant nonsyndromic deafness
  • Konigsmark syndrome
  • LFHL1
  • autosomal dominant deafness 1
  • autosomal dominant nonsyndromic deafness 1
  • autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1
  • autosomal dominant nonsyndromic deafness type 1
  • deafness, autosomal dominant 1
  • deafness, autosomal dominant 1, with or without thrombocytopenia
  • deafness, autosomal dominant type 1
  • deafness, progressive Low tone
  • hereditary Low frequency hearing loss
  • hereditary low frequency hearing loss 1
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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