autosomal recessive nonsyndromic deafness 4

Summary
Synonym
  • DFNB4
  • autosomal recessive deafness 4 with enlarged vestibular aqueduct
Definition
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22.
Super Class
autosomal recessive nonsyndromic deafness
External Links
Disease Ontology
DOID:0110498
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
146183 OTOA otoancorin
220074 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
340990 OTOG otogelin

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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: August 19, 2024