X-linked deafness 4

Summary
Synonym
  • DFN6
  • DFNX4
  • X-linked progressive deafness 6
  • nonsyndromic sensorineural progressive deafness 6
Definition
An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12.
Super Class
X-linked nonsyndromic deafness
Disease Ontology
DOID:0111735
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23676 SMPX small muscle protein X-linked

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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