autosomal recessive nonsyndromic deafness 110

Summary
Synonym
  • DFNB110
  • autosomal recessive deafness 110
Definition
An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12.
Super Class
autosomal recessive nonsyndromic deafness
Disease Ontology
DOID:0111644
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1690 COCH cochlin
Displaying 1 entry
Gene ID Gene Symbol Description Source
12810 Coch cochlin

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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