autosomal recessive nonsyndromic deafness 106

Summary
Definition
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15.
Super Class
autosomal recessive nonsyndromic deafness
Disease Ontology
DOID:0080261
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
64787 EPS8L2 EPS8 signaling adaptor L2

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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