Term Name: | X-linked deafness 6 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111740] ( DOID:0111740 ) |