X-linked deafness 6

Term ID

DOID:0111740

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. https://www.ncbi.nlm.nih.gov/pubmed/23714752

References

• OMIM:300914

Ontology

Human Disease   ( DOID:0111740 )