autosomal recessive nonsyndromic deafness 23

Summary
Synonym
  • DFNB23
  • autosomal recessive deafness 23
Definition
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21.
Super Class
autosomal recessive nonsyndromic deafness
Disease Ontology
DOID:0110481
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
65217 PCDH15 protocadherin related 15
Displaying 1 entry
Gene ID Gene Symbol Description Source
11994 Pcdh15 protocadherin 15
Displaying 1 entry
Gene ID Gene Symbol Description Source
43528 Cad99C Cadherin 99C

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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