| Metadata | |
|---|---|
| ID | DOID:0111740 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/23714752 |
| Xrefs | |
| Synonyms |
DFNX6 [EXACT] |
| Parent Relationships |