autosomal recessive nonsyndromic deafness 116

Summary
Synonym
  • DFNB116
Definition
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3.
Super Class
autosomal recessive nonsyndromic deafness
External Links
Disease Ontology
DOID:0112162
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9080 CLDN9 claudin 9

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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