autosomal recessive nonsyndromic deafness 1B

Summary
Synonym
  • DFNB1B
  • autosomal recessive deafness 1B
Definition
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.
Super Class
autosomal recessive nonsyndromic deafness
Disease Ontology
DOID:0110476
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
14623 Gjb6 gap junction protein, beta 6

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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