autosomal dominant nonsyndromic deafness 6

Summary
Synonym
  • DFNA14
  • DFNA38
  • DFNA6
  • autosomal dominant deafness 14
  • autosomal dominant deafness 38
  • autosomal dominant deafness 6
Definition
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16.
Super Class
autosomal dominant nonsyndromic deafness
Disease Ontology
DOID:0110584
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7466 WFS1 wolframin ER transmembrane glycoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
22393 Wfs1 wolframin ER transmembrane glycoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
42679 wfs1 wolfram syndrome 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024