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MIRAGE
X-linked deafness 6
Summary
- Synonym
-
- DFNX6
- 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.
- Super Class
- X-linked nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0111740
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14031 | Collagen alpha-6(IV) chain |
