Version: 8.0.0
Date: Tue Jan 28 2025
X-linked deafness 6
DOID:0111740
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked deafness 6

Definition
An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3.
Synonyms
  • DFNX6
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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