deafness autosomal recessive type 7
deafness autosomal recessive type 7
A bilateral, autosomal recessive form (OMIM:600974) of profound sensorineural deafness that appears at birth, due to defects in the neural receptors of the inner ear, the nerve pathways to the brain, or auditory cortex.Molecular pathology
Defects of TMC1, which encodes a protein that may be required for normal cochlear hair cell function, cause deafness autosomal recessive type 7.