autosomal recessive nonsyndromic deafness 113

Summary
Synonym
  • DFNB113
  • autosomal recessive deafness 113
Definition
An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13.
Super Class
autosomal recessive nonsyndromic deafness
Disease Ontology
DOID:0111636
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
388551 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q2WEN9 Cell adhesion molecule CEACAM16

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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: April 7, 2025