Clinically isolated hearing loss as a mild phenotype of PEX26-associated peroxisomal biogenesis disorder: A case report, literature review, and in silico analysis.
An Iranian man presented with bilateral sensorineural hearing loss (SNHL) and no other clinical manifestations at evaluation.
Clinical pearl
In bilateral SNHL without other apparent manifestations, genetic evaluation may identify a PEX26-associated phenotype; family segregation can support the relevance of a detected variant.