autosomal recessive nonsyndromic deafness 102

Summary
Synonym
  • DFNB102
  • autosomal recessive deafness 102
Definition
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.
Super Class
autosomal recessive nonsyndromic deafness
Disease Ontology
DOID:0110463
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2059 EPS8 EGFR pathway substrate 8, signaling adaptor
Related Glycoprotein

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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