Version: 8.0.0
Date: Tue Jan 28 2025
X-linked deafness 1
DOID:0111739
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked deafness 1

Definition
An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.
Synonyms
  • DFN2
  • DFNX1
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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      Associated Models

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