deafness autosomal recessive type 6
deafness autosomal recessive type 6
An autosomal recessive form (OMIM:600971) of sensorineural hearing loss, which is due to damage or defects of neural receptors of the inner ear, the nerve pathways to the brain, or the auditory cortex itself.Molecular pathology
Defects of TMIE, which encodes a transmembrane inner ear protein that may be required for normal postnatal maturation of sensory hair cells in the cochlea, cause deafness autosomal recessive type 6.