Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.

is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA). However, mutated is not conclusive for having either DFNB4 or PDS.