Term Name: X-linked deafness 6
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 )

Relationships
is a type of: X-linked nonsyndromic deafness